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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Mutations in <italic>KLHL40</italic> Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy</title><author><name sortKey="Ravenscroft, Gianina" sort="Ravenscroft, Gianina" uniqKey="Ravenscroft G" first="Gianina" last="Ravenscroft">Gianina Ravenscroft</name><affiliation><nlm:aff id="aff1">Western Australian Institute for Medical Research and the Centre for Medical Research, University of Western Australia, Nedlands, Western Australia 6009, Australia</nlm:aff></affiliation></author><author><name sortKey="Miyatake, Satoko" sort="Miyatake, Satoko" uniqKey="Miyatake S" first="Satoko" last="Miyatake">Satoko Miyatake</name><affiliation><nlm:aff id="aff2">Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan</nlm:aff></affiliation></author><author><name sortKey="Lehtokari, Vilma Lotta" sort="Lehtokari, Vilma Lotta" uniqKey="Lehtokari V" first="Vilma-Lotta" last="Lehtokari">Vilma-Lotta Lehtokari</name><affiliation><nlm:aff id="aff3">The Folkhälsan Institute of Genetics, Samfundet Folkhälsan, Biomedicum Helsinki, PB 63 (Haartmaninkatu 8), University of Helsinki, Helsinki 00014, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki 00014, Finland</nlm:aff></affiliation></author><author><name sortKey="Todd, Emily J" sort="Todd, Emily J" uniqKey="Todd E" first="Emily J." last="Todd">Emily J. Todd</name><affiliation><nlm:aff id="aff1">Western Australian Institute for Medical Research and the Centre for Medical Research, University of Western Australia, Nedlands, Western Australia 6009, Australia</nlm:aff></affiliation></author><author><name sortKey="Vornanen, Pauliina" sort="Vornanen, Pauliina" uniqKey="Vornanen P" first="Pauliina" last="Vornanen">Pauliina Vornanen</name><affiliation><nlm:aff id="aff3">The Folkhälsan Institute of Genetics, Samfundet Folkhälsan, Biomedicum Helsinki, PB 63 (Haartmaninkatu 8), University of Helsinki, Helsinki 00014, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki 00014, Finland</nlm:aff></affiliation></author><author><name sortKey="Yau, Kyle S" sort="Yau, Kyle S" uniqKey="Yau K" first="Kyle S." last="Yau">Kyle S. Yau</name><affiliation><nlm:aff id="aff1">Western Australian Institute for Medical Research and the Centre for Medical Research, University of Western Australia, Nedlands, Western Australia 6009, Australia</nlm:aff></affiliation></author><author><name sortKey="Hayashi, Yukiko K" sort="Hayashi, Yukiko K" uniqKey="Hayashi Y" first="Yukiko K." last="Hayashi">Yukiko K. Hayashi</name><affiliation><nlm:aff id="aff5">Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo 187-8502, Japan</nlm:aff></affiliation></author><author><name sortKey="Miyake, Noriko" sort="Miyake, Noriko" uniqKey="Miyake N" first="Noriko" last="Miyake">Noriko Miyake</name><affiliation><nlm:aff id="aff2">Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan</nlm:aff></affiliation></author><author><name sortKey="Tsurusaki, Yoshinori" sort="Tsurusaki, Yoshinori" uniqKey="Tsurusaki Y" first="Yoshinori" last="Tsurusaki">Yoshinori Tsurusaki</name><affiliation><nlm:aff id="aff2">Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan</nlm:aff></affiliation></author><author><name sortKey="Doi, Hiroshi" sort="Doi, Hiroshi" uniqKey="Doi H" first="Hiroshi" last="Doi">Hiroshi Doi</name><affiliation><nlm:aff id="aff2">Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan</nlm:aff></affiliation></author><author><name sortKey="Saitsu, Hirotomo" sort="Saitsu, Hirotomo" uniqKey="Saitsu H" first="Hirotomo" last="Saitsu">Hirotomo Saitsu</name><affiliation><nlm:aff id="aff2">Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan</nlm:aff></affiliation></author><author><name sortKey="Osaka, Hitoshi" sort="Osaka, Hitoshi" uniqKey="Osaka H" first="Hitoshi" last="Osaka">Hitoshi Osaka</name><affiliation><nlm:aff id="aff6">Division of Neurology, Clinical Research Institute, Kanagawa Children’s Medical Center, Yokohama 232-8555, Japan</nlm:aff></affiliation></author><author><name sortKey="Yamashita, Sumimasa" sort="Yamashita, Sumimasa" uniqKey="Yamashita S" first="Sumimasa" last="Yamashita">Sumimasa Yamashita</name><affiliation><nlm:aff id="aff6">Division of Neurology, Clinical Research Institute, Kanagawa Children’s Medical Center, Yokohama 232-8555, Japan</nlm:aff></affiliation></author><author><name sortKey="Ohya, Takashi" sort="Ohya, Takashi" uniqKey="Ohya T" first="Takashi" last="Ohya">Takashi Ohya</name><affiliation><nlm:aff id="aff7">Department of Pediatrics, Odawara Municipal Hospital, Odawara 232-8558, Japan</nlm:aff></affiliation></author><author><name sortKey="Sakamoto, Yuko" sort="Sakamoto, Yuko" uniqKey="Sakamoto Y" first="Yuko" last="Sakamoto">Yuko Sakamoto</name><affiliation><nlm:aff id="aff7">Department of Pediatrics, Odawara Municipal Hospital, Odawara 232-8558, Japan</nlm:aff></affiliation></author><author><name sortKey="Koshimizu, Eriko" sort="Koshimizu, Eriko" uniqKey="Koshimizu E" first="Eriko" last="Koshimizu">Eriko Koshimizu</name><affiliation><nlm:aff id="aff2">Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan</nlm:aff></affiliation></author><author><name sortKey="Imamura, Shintaro" sort="Imamura, Shintaro" uniqKey="Imamura S" first="Shintaro" last="Imamura">Shintaro Imamura</name><affiliation><nlm:aff id="aff8">National Research Institute of Fisheries Science, Yokohama 236-8648, Japan</nlm:aff></affiliation></author><author><name sortKey="Yamashita, Michiaki" sort="Yamashita, Michiaki" uniqKey="Yamashita M" first="Michiaki" last="Yamashita">Michiaki Yamashita</name><affiliation><nlm:aff id="aff8">National Research Institute of Fisheries Science, Yokohama 236-8648, Japan</nlm:aff></affiliation></author><author><name sortKey="Ogata, Kazuhiro" sort="Ogata, Kazuhiro" uniqKey="Ogata K" first="Kazuhiro" last="Ogata">Kazuhiro Ogata</name><affiliation><nlm:aff id="aff9">Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan</nlm:aff></affiliation></author><author><name sortKey="Shiina, Masaaki" sort="Shiina, Masaaki" uniqKey="Shiina M" first="Masaaki" last="Shiina">Masaaki Shiina</name><affiliation><nlm:aff id="aff9">Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan</nlm:aff></affiliation></author><author><name sortKey="Bryson Richardson, Robert J" sort="Bryson Richardson, Robert J" uniqKey="Bryson Richardson R" first="Robert J." last="Bryson-Richardson">Robert J. Bryson-Richardson</name><affiliation><nlm:aff id="aff10">School of Biological Sciences, Monash University, Victoria 3800, Australia</nlm:aff></affiliation></author><author><name sortKey="Vaz, Raquel" sort="Vaz, Raquel" uniqKey="Vaz R" first="Raquel" last="Vaz">Raquel Vaz</name><affiliation><nlm:aff id="aff10">School of Biological Sciences, Monash University, Victoria 3800, Australia</nlm:aff></affiliation></author><author><name sortKey="Ceyhan, Ozge" sort="Ceyhan, Ozge" uniqKey="Ceyhan O" first="Ozge" last="Ceyhan">Ozge Ceyhan</name><affiliation><nlm:aff id="aff11">The Manton Center for Orphan Disease Research, Genetics and Genomics, Boston Children’s Hospital and Harvard Medical School, Boston MA, 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Brownstein, Catherine A" sort="Brownstein, Catherine A" uniqKey="Brownstein C" first="Catherine A." last="Brownstein">Catherine A. Brownstein</name><affiliation><nlm:aff id="aff11">The Manton Center for Orphan Disease Research, Genetics and Genomics, Boston Children’s Hospital and Harvard Medical School, Boston MA, 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Swanson, Lindsay C" sort="Swanson, Lindsay C" uniqKey="Swanson L" first="Lindsay C." last="Swanson">Lindsay C. Swanson</name><affiliation><nlm:aff id="aff11">The Manton Center for Orphan Disease Research, Genetics and Genomics, Boston Children’s Hospital and Harvard Medical School, Boston MA, 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Monnot, Sophie" sort="Monnot, Sophie" uniqKey="Monnot S" first="Sophie" last="Monnot">Sophie Monnot</name><affiliation><nlm:aff id="aff12">Service Génétique Médicale, Hôpital Necker-Enfants Malades, Université Paris Descartes, Paris 75015, France</nlm:aff></affiliation></author><author><name sortKey="Romero, Norma B" sort="Romero, Norma B" uniqKey="Romero N" first="Norma B." last="Romero">Norma B. Romero</name><affiliation><nlm:aff id="aff13">Unité de Morphologie Neuromusculaire, Institut de Myologie, Institut National de la Santé et de la Recherche Médicale, Paris 75651, France</nlm:aff></affiliation></author><author><name sortKey="Amthor, Helge" sort="Amthor, Helge" uniqKey="Amthor H" first="Helge" last="Amthor">Helge Amthor</name><affiliation><nlm:aff id="aff12">Service Génétique Médicale, Hôpital Necker-Enfants Malades, Université Paris Descartes, Paris 75015, France</nlm:aff></affiliation></author><author><name sortKey="Kresoje, Nina" sort="Kresoje, Nina" uniqKey="Kresoje N" first="Nina" last="Kresoje">Nina Kresoje</name><affiliation><nlm:aff id="aff14">Lotterywest State Biomedical Facility Genomics and School of Pathology and Laboratory Medicine, University of Western Australia, Perth, Western Australia 6000, Australia</nlm:aff></affiliation></author><author><name sortKey="Sivadorai, Padma" sort="Sivadorai, Padma" uniqKey="Sivadorai P" first="Padma" last="Sivadorai">Padma Sivadorai</name><affiliation><nlm:aff id="aff15">Department of Anatomical Pathology, Royal Perth Hospital, Perth, Western Australia 6000, Australia</nlm:aff></affiliation></author><author><name sortKey="Kiraly Borri, Cathy" sort="Kiraly Borri, Cathy" uniqKey="Kiraly Borri C" first="Cathy" last="Kiraly-Borri">Cathy Kiraly-Borri</name><affiliation><nlm:aff id="aff16">Genetic Services of Western Australia, Princess Margaret Hospital for Children and King Edward Memorial Hospital for Women, Subiaco, Western Australia 6008, Australia</nlm:aff></affiliation></author><author><name sortKey="Haliloglu, Goknur" sort="Haliloglu, Goknur" uniqKey="Haliloglu G" first="Goknur" last="Haliloglu">Goknur Haliloglu</name><affiliation><nlm:aff id="aff17">Department of Pediatric Neurology, Hacettepe University Children’s Hospital, Ankara 06100, Turkey</nlm:aff></affiliation></author><author><name sortKey="Talim, Beril" sort="Talim, Beril" uniqKey="Talim B" first="Beril" last="Talim">Beril Talim</name><affiliation><nlm:aff id="aff17">Department of Pediatric Neurology, Hacettepe University Children’s Hospital, Ankara 06100, Turkey</nlm:aff></affiliation></author><author><name sortKey="Orhan, Diclehan" sort="Orhan, Diclehan" uniqKey="Orhan D" first="Diclehan" last="Orhan">Diclehan Orhan</name><affiliation><nlm:aff id="aff18">Department of Pediatric Pathology, Hacettepe University Children’s Hospital, Ankara 06100, Turkey</nlm:aff></affiliation></author><author><name sortKey="Kale, Gulsev" sort="Kale, Gulsev" uniqKey="Kale G" first="Gulsev" last="Kale">Gulsev Kale</name><affiliation><nlm:aff id="aff18">Department of Pediatric Pathology, Hacettepe University Children’s Hospital, Ankara 06100, Turkey</nlm:aff></affiliation></author><author><name sortKey="Charles, Adrian K" sort="Charles, Adrian K" uniqKey="Charles A" first="Adrian K." last="Charles">Adrian K. Charles</name><affiliation><nlm:aff id="aff19">School of Women’s and Infants’ Health, University of Western Australia, Crawley, Western Australia 6009, Australia</nlm:aff></affiliation></author><author><name sortKey="Fabian, Victoria A" sort="Fabian, Victoria A" uniqKey="Fabian V" first="Victoria A." last="Fabian">Victoria A. Fabian</name><affiliation><nlm:aff id="aff15">Department of Anatomical Pathology, Royal Perth Hospital, Perth, Western Australia 6000, Australia</nlm:aff></affiliation></author><author><name sortKey="Davis, Mark R" sort="Davis, Mark R" uniqKey="Davis M" first="Mark R." last="Davis">Mark R. Davis</name><affiliation><nlm:aff id="aff15">Department of Anatomical Pathology, Royal Perth Hospital, Perth, Western Australia 6000, Australia</nlm:aff></affiliation></author><author><name sortKey="Lammens, Martin" sort="Lammens, Martin" uniqKey="Lammens M" first="Martin" last="Lammens">Martin Lammens</name><affiliation><nlm:aff id="aff20">Department of Pathology, University Hospital Antwerp, Antwerp 2650, Belgium</nlm:aff></affiliation></author><author><name sortKey="Sewry, Caroline A" sort="Sewry, Caroline A" uniqKey="Sewry C" first="Caroline A." last="Sewry">Caroline A. Sewry</name><affiliation><nlm:aff id="aff21">Dubowitz Neuromuscular Centre, UCL Institute of Child Health and Great Ormond Street Hospital for Children, London WC1N 1EH, UK</nlm:aff></affiliation></author><author><name sortKey="Manzur, Adnan" sort="Manzur, Adnan" uniqKey="Manzur A" first="Adnan" last="Manzur">Adnan Manzur</name><affiliation><nlm:aff id="aff21">Dubowitz Neuromuscular Centre, UCL Institute of Child Health and Great Ormond Street Hospital for Children, London WC1N 1EH, UK</nlm:aff></affiliation></author><author><name sortKey="Muntoni, Francesco" sort="Muntoni, Francesco" uniqKey="Muntoni F" first="Francesco" last="Muntoni">Francesco Muntoni</name><affiliation><nlm:aff id="aff21">Dubowitz Neuromuscular Centre, UCL Institute of Child Health and Great Ormond Street Hospital for Children, London WC1N 1EH, UK</nlm:aff></affiliation></author><author><name sortKey="Clarke, Nigel F" sort="Clarke, Nigel F" uniqKey="Clarke N" first="Nigel F." last="Clarke">Nigel F. Clarke</name><affiliation><nlm:aff id="aff22">Institute for Neuroscience and Muscle Research, Children’s Hospital at Westmead, Sydney 2145, Australia</nlm:aff></affiliation></author><author><name sortKey="North, Kathryn N" sort="North, Kathryn N" uniqKey="North K" first="Kathryn N." last="North">Kathryn N. North</name><affiliation><nlm:aff id="aff23">Murdoch Childrens Research Institute, The Royal Children’s Hospital, Parkville, Victoria 3052, Australia</nlm:aff></affiliation></author><author><name sortKey="Bertini, Enrico" sort="Bertini, Enrico" uniqKey="Bertini E" first="Enrico" last="Bertini">Enrico Bertini</name><affiliation><nlm:aff id="aff24">Unit of Neuromuscular Disorders, Bambino Gesù Children’s Hospital, Rome, Lazio 00165, Italy</nlm:aff></affiliation></author><author><name sortKey="Nevo, Yoram" sort="Nevo, Yoram" uniqKey="Nevo Y" first="Yoram" last="Nevo">Yoram Nevo</name><affiliation><nlm:aff id="aff25">Neuropediatric Unit, Hadassah Medical Center, Hebrew University of Jerusalem, Jerusalem 91240, Israel</nlm:aff></affiliation></author><author><name sortKey="Willichowski, Ekkhard" sort="Willichowski, Ekkhard" uniqKey="Willichowski E" first="Ekkhard" last="Willichowski">Ekkhard Willichowski</name><affiliation><nlm:aff id="aff26">Department of Pediatrics and Pediatric Neurology, University Medicine Göttingen, Göttingen 37075, Germany</nlm:aff></affiliation></author><author><name sortKey="Silberg, Inger E" sort="Silberg, Inger E" uniqKey="Silberg I" first="Inger E." last="Silberg">Inger E. Silberg</name><affiliation><nlm:aff id="aff27">Neonatal Intensive Care Unit, Department of Pediatric Research, Women and Children’s Division, Oslo University Hospital Rikshospitalet, Oslo 0424, Norway</nlm:aff></affiliation></author><author><name sortKey="Topaloglu, Haluk" sort="Topaloglu, Haluk" uniqKey="Topaloglu H" first="Haluk" last="Topaloglu">Haluk Topaloglu</name><affiliation><nlm:aff id="aff17">Department of Pediatric Neurology, Hacettepe University Children’s Hospital, Ankara 06100, Turkey</nlm:aff></affiliation></author><author><name sortKey="Beggs, Alan H" sort="Beggs, Alan H" uniqKey="Beggs A" first="Alan H." last="Beggs">Alan H. Beggs</name><affiliation><nlm:aff id="aff11">The Manton Center for Orphan Disease Research, Genetics and Genomics, Boston Children’s Hospital and Harvard Medical School, Boston MA, 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Allcock, Richard J N" sort="Allcock, Richard J N" uniqKey="Allcock R" first="Richard J. N." last="Allcock">Richard J. N. Allcock</name><affiliation><nlm:aff id="aff14">Lotterywest State Biomedical Facility Genomics and School of Pathology and Laboratory Medicine, University of Western Australia, Perth, Western Australia 6000, Australia</nlm:aff></affiliation></author><author><name sortKey="Nishino, Ichizo" sort="Nishino, Ichizo" uniqKey="Nishino I" first="Ichizo" last="Nishino">Ichizo Nishino</name><affiliation><nlm:aff id="aff5">Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo 187-8502, Japan</nlm:aff></affiliation></author><author><name sortKey="Wallgren Pettersson, Carina" sort="Wallgren Pettersson, Carina" uniqKey="Wallgren Pettersson C" first="Carina" last="Wallgren-Pettersson">Carina Wallgren-Pettersson</name><affiliation><nlm:aff id="aff3">The Folkhälsan Institute of Genetics, Samfundet Folkhälsan, Biomedicum Helsinki, PB 63 (Haartmaninkatu 8), University of Helsinki, Helsinki 00014, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki 00014, Finland</nlm:aff></affiliation></author><author><name sortKey="Matsumoto, Naomichi" sort="Matsumoto, Naomichi" uniqKey="Matsumoto N" first="Naomichi" last="Matsumoto">Naomichi Matsumoto</name><affiliation><nlm:aff id="aff2">Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan</nlm:aff></affiliation></author><author><name sortKey="Laing, Nigel G" sort="Laing, Nigel G" uniqKey="Laing N" first="Nigel G." last="Laing">Nigel G. Laing</name><affiliation><nlm:aff id="aff1">Western Australian Institute for Medical Research and the Centre for Medical Research, University of Western Australia, Nedlands, Western Australia 6009, Australia</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">23746549</idno><idno type="pmc">3710748</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3710748</idno><idno type="RBID">PMC:3710748</idno><idno type="doi">10.1016/j.ajhg.2013.05.004</idno><date when="2013">2013</date><idno type="wicri:Area/Pmc/Corpus">001685</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001685</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Mutations in <italic>KLHL40</italic> Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy</title><author><name sortKey="Ravenscroft, Gianina" sort="Ravenscroft, Gianina" uniqKey="Ravenscroft G" first="Gianina" last="Ravenscroft">Gianina Ravenscroft</name><affiliation><nlm:aff id="aff1">Western Australian Institute for Medical Research and the Centre for Medical Research, University of Western Australia, Nedlands, Western Australia 6009, Australia</nlm:aff></affiliation></author><author><name sortKey="Miyatake, Satoko" sort="Miyatake, Satoko" uniqKey="Miyatake S" first="Satoko" last="Miyatake">Satoko Miyatake</name><affiliation><nlm:aff id="aff2">Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan</nlm:aff></affiliation></author><author><name sortKey="Lehtokari, Vilma Lotta" sort="Lehtokari, Vilma Lotta" uniqKey="Lehtokari V" first="Vilma-Lotta" last="Lehtokari">Vilma-Lotta Lehtokari</name><affiliation><nlm:aff id="aff3">The Folkhälsan Institute of Genetics, Samfundet Folkhälsan, Biomedicum Helsinki, PB 63 (Haartmaninkatu 8), University of Helsinki, Helsinki 00014, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki 00014, Finland</nlm:aff></affiliation></author><author><name sortKey="Todd, Emily J" sort="Todd, Emily J" uniqKey="Todd E" first="Emily J." last="Todd">Emily J. Todd</name><affiliation><nlm:aff id="aff1">Western Australian Institute for Medical Research and the Centre for Medical Research, University of Western Australia, Nedlands, Western Australia 6009, Australia</nlm:aff></affiliation></author><author><name sortKey="Vornanen, Pauliina" sort="Vornanen, Pauliina" uniqKey="Vornanen P" first="Pauliina" last="Vornanen">Pauliina Vornanen</name><affiliation><nlm:aff id="aff3">The Folkhälsan Institute of Genetics, Samfundet Folkhälsan, Biomedicum Helsinki, PB 63 (Haartmaninkatu 8), University of Helsinki, Helsinki 00014, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki 00014, Finland</nlm:aff></affiliation></author><author><name sortKey="Yau, Kyle S" sort="Yau, Kyle S" uniqKey="Yau K" first="Kyle S." last="Yau">Kyle S. Yau</name><affiliation><nlm:aff id="aff1">Western Australian Institute for Medical Research and the Centre for Medical Research, University of Western Australia, Nedlands, Western Australia 6009, Australia</nlm:aff></affiliation></author><author><name sortKey="Hayashi, Yukiko K" sort="Hayashi, Yukiko K" uniqKey="Hayashi Y" first="Yukiko K." last="Hayashi">Yukiko K. Hayashi</name><affiliation><nlm:aff id="aff5">Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo 187-8502, Japan</nlm:aff></affiliation></author><author><name sortKey="Miyake, Noriko" sort="Miyake, Noriko" uniqKey="Miyake N" first="Noriko" last="Miyake">Noriko Miyake</name><affiliation><nlm:aff id="aff2">Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan</nlm:aff></affiliation></author><author><name sortKey="Tsurusaki, Yoshinori" sort="Tsurusaki, Yoshinori" uniqKey="Tsurusaki Y" first="Yoshinori" last="Tsurusaki">Yoshinori Tsurusaki</name><affiliation><nlm:aff id="aff2">Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan</nlm:aff></affiliation></author><author><name sortKey="Doi, Hiroshi" sort="Doi, Hiroshi" uniqKey="Doi H" first="Hiroshi" last="Doi">Hiroshi Doi</name><affiliation><nlm:aff id="aff2">Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan</nlm:aff></affiliation></author><author><name sortKey="Saitsu, Hirotomo" sort="Saitsu, Hirotomo" uniqKey="Saitsu H" first="Hirotomo" last="Saitsu">Hirotomo Saitsu</name><affiliation><nlm:aff id="aff2">Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan</nlm:aff></affiliation></author><author><name sortKey="Osaka, Hitoshi" sort="Osaka, Hitoshi" uniqKey="Osaka H" first="Hitoshi" last="Osaka">Hitoshi Osaka</name><affiliation><nlm:aff id="aff6">Division of Neurology, Clinical Research Institute, Kanagawa Children’s Medical Center, Yokohama 232-8555, Japan</nlm:aff></affiliation></author><author><name sortKey="Yamashita, Sumimasa" sort="Yamashita, Sumimasa" uniqKey="Yamashita S" first="Sumimasa" last="Yamashita">Sumimasa Yamashita</name><affiliation><nlm:aff id="aff6">Division of Neurology, Clinical Research Institute, Kanagawa Children’s Medical Center, Yokohama 232-8555, Japan</nlm:aff></affiliation></author><author><name sortKey="Ohya, Takashi" sort="Ohya, Takashi" uniqKey="Ohya T" first="Takashi" last="Ohya">Takashi Ohya</name><affiliation><nlm:aff id="aff7">Department of Pediatrics, Odawara Municipal Hospital, Odawara 232-8558, Japan</nlm:aff></affiliation></author><author><name sortKey="Sakamoto, Yuko" sort="Sakamoto, Yuko" uniqKey="Sakamoto Y" first="Yuko" last="Sakamoto">Yuko Sakamoto</name><affiliation><nlm:aff id="aff7">Department of Pediatrics, Odawara Municipal Hospital, Odawara 232-8558, Japan</nlm:aff></affiliation></author><author><name sortKey="Koshimizu, Eriko" sort="Koshimizu, Eriko" uniqKey="Koshimizu E" first="Eriko" last="Koshimizu">Eriko Koshimizu</name><affiliation><nlm:aff id="aff2">Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan</nlm:aff></affiliation></author><author><name sortKey="Imamura, Shintaro" sort="Imamura, Shintaro" uniqKey="Imamura S" first="Shintaro" last="Imamura">Shintaro Imamura</name><affiliation><nlm:aff id="aff8">National Research Institute of Fisheries Science, Yokohama 236-8648, Japan</nlm:aff></affiliation></author><author><name sortKey="Yamashita, Michiaki" sort="Yamashita, Michiaki" uniqKey="Yamashita M" first="Michiaki" last="Yamashita">Michiaki Yamashita</name><affiliation><nlm:aff id="aff8">National Research Institute of Fisheries Science, Yokohama 236-8648, Japan</nlm:aff></affiliation></author><author><name sortKey="Ogata, Kazuhiro" sort="Ogata, Kazuhiro" uniqKey="Ogata K" first="Kazuhiro" last="Ogata">Kazuhiro Ogata</name><affiliation><nlm:aff id="aff9">Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan</nlm:aff></affiliation></author><author><name sortKey="Shiina, Masaaki" sort="Shiina, Masaaki" uniqKey="Shiina M" first="Masaaki" last="Shiina">Masaaki Shiina</name><affiliation><nlm:aff id="aff9">Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan</nlm:aff></affiliation></author><author><name sortKey="Bryson Richardson, Robert J" sort="Bryson Richardson, Robert J" uniqKey="Bryson Richardson R" first="Robert J." last="Bryson-Richardson">Robert J. Bryson-Richardson</name><affiliation><nlm:aff id="aff10">School of Biological Sciences, Monash University, Victoria 3800, Australia</nlm:aff></affiliation></author><author><name sortKey="Vaz, Raquel" sort="Vaz, Raquel" uniqKey="Vaz R" first="Raquel" last="Vaz">Raquel Vaz</name><affiliation><nlm:aff id="aff10">School of Biological Sciences, Monash University, Victoria 3800, Australia</nlm:aff></affiliation></author><author><name sortKey="Ceyhan, Ozge" sort="Ceyhan, Ozge" uniqKey="Ceyhan O" first="Ozge" last="Ceyhan">Ozge Ceyhan</name><affiliation><nlm:aff id="aff11">The Manton Center for Orphan Disease Research, Genetics and Genomics, Boston Children’s Hospital and Harvard Medical School, Boston MA, 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Brownstein, Catherine A" sort="Brownstein, Catherine A" uniqKey="Brownstein C" first="Catherine A." last="Brownstein">Catherine A. Brownstein</name><affiliation><nlm:aff id="aff11">The Manton Center for Orphan Disease Research, Genetics and Genomics, Boston Children’s Hospital and Harvard Medical School, Boston MA, 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Swanson, Lindsay C" sort="Swanson, Lindsay C" uniqKey="Swanson L" first="Lindsay C." last="Swanson">Lindsay C. Swanson</name><affiliation><nlm:aff id="aff11">The Manton Center for Orphan Disease Research, Genetics and Genomics, Boston Children’s Hospital and Harvard Medical School, Boston MA, 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Monnot, Sophie" sort="Monnot, Sophie" uniqKey="Monnot S" first="Sophie" last="Monnot">Sophie Monnot</name><affiliation><nlm:aff id="aff12">Service Génétique Médicale, Hôpital Necker-Enfants Malades, Université Paris Descartes, Paris 75015, France</nlm:aff></affiliation></author><author><name sortKey="Romero, Norma B" sort="Romero, Norma B" uniqKey="Romero N" first="Norma B." last="Romero">Norma B. Romero</name><affiliation><nlm:aff id="aff13">Unité de Morphologie Neuromusculaire, Institut de Myologie, Institut National de la Santé et de la Recherche Médicale, Paris 75651, France</nlm:aff></affiliation></author><author><name sortKey="Amthor, Helge" sort="Amthor, Helge" uniqKey="Amthor H" first="Helge" last="Amthor">Helge Amthor</name><affiliation><nlm:aff id="aff12">Service Génétique Médicale, Hôpital Necker-Enfants Malades, Université Paris Descartes, Paris 75015, France</nlm:aff></affiliation></author><author><name sortKey="Kresoje, Nina" sort="Kresoje, Nina" uniqKey="Kresoje N" first="Nina" last="Kresoje">Nina Kresoje</name><affiliation><nlm:aff id="aff14">Lotterywest State Biomedical Facility Genomics and School of Pathology and Laboratory Medicine, University of Western Australia, Perth, Western Australia 6000, Australia</nlm:aff></affiliation></author><author><name sortKey="Sivadorai, Padma" sort="Sivadorai, Padma" uniqKey="Sivadorai P" first="Padma" last="Sivadorai">Padma Sivadorai</name><affiliation><nlm:aff id="aff15">Department of Anatomical Pathology, Royal Perth Hospital, Perth, Western Australia 6000, Australia</nlm:aff></affiliation></author><author><name sortKey="Kiraly Borri, Cathy" sort="Kiraly Borri, Cathy" uniqKey="Kiraly Borri C" first="Cathy" last="Kiraly-Borri">Cathy Kiraly-Borri</name><affiliation><nlm:aff id="aff16">Genetic Services of Western Australia, Princess Margaret Hospital for Children and King Edward Memorial Hospital for Women, Subiaco, Western Australia 6008, Australia</nlm:aff></affiliation></author><author><name sortKey="Haliloglu, Goknur" sort="Haliloglu, Goknur" uniqKey="Haliloglu G" first="Goknur" last="Haliloglu">Goknur Haliloglu</name><affiliation><nlm:aff id="aff17">Department of Pediatric Neurology, Hacettepe University Children’s Hospital, Ankara 06100, Turkey</nlm:aff></affiliation></author><author><name sortKey="Talim, Beril" sort="Talim, Beril" uniqKey="Talim B" first="Beril" last="Talim">Beril Talim</name><affiliation><nlm:aff id="aff17">Department of Pediatric Neurology, Hacettepe University Children’s Hospital, Ankara 06100, Turkey</nlm:aff></affiliation></author><author><name sortKey="Orhan, Diclehan" sort="Orhan, Diclehan" uniqKey="Orhan D" first="Diclehan" last="Orhan">Diclehan Orhan</name><affiliation><nlm:aff id="aff18">Department of Pediatric Pathology, Hacettepe University Children’s Hospital, Ankara 06100, Turkey</nlm:aff></affiliation></author><author><name sortKey="Kale, Gulsev" sort="Kale, Gulsev" uniqKey="Kale G" first="Gulsev" last="Kale">Gulsev Kale</name><affiliation><nlm:aff id="aff18">Department of Pediatric Pathology, Hacettepe University Children’s Hospital, Ankara 06100, Turkey</nlm:aff></affiliation></author><author><name sortKey="Charles, Adrian K" sort="Charles, Adrian K" uniqKey="Charles A" first="Adrian K." last="Charles">Adrian K. Charles</name><affiliation><nlm:aff id="aff19">School of Women’s and Infants’ Health, University of Western Australia, Crawley, Western Australia 6009, Australia</nlm:aff></affiliation></author><author><name sortKey="Fabian, Victoria A" sort="Fabian, Victoria A" uniqKey="Fabian V" first="Victoria A." last="Fabian">Victoria A. Fabian</name><affiliation><nlm:aff id="aff15">Department of Anatomical Pathology, Royal Perth Hospital, Perth, Western Australia 6000, Australia</nlm:aff></affiliation></author><author><name sortKey="Davis, Mark R" sort="Davis, Mark R" uniqKey="Davis M" first="Mark R." last="Davis">Mark R. Davis</name><affiliation><nlm:aff id="aff15">Department of Anatomical Pathology, Royal Perth Hospital, Perth, Western Australia 6000, Australia</nlm:aff></affiliation></author><author><name sortKey="Lammens, Martin" sort="Lammens, Martin" uniqKey="Lammens M" first="Martin" last="Lammens">Martin Lammens</name><affiliation><nlm:aff id="aff20">Department of Pathology, University Hospital Antwerp, Antwerp 2650, Belgium</nlm:aff></affiliation></author><author><name sortKey="Sewry, Caroline A" sort="Sewry, Caroline A" uniqKey="Sewry C" first="Caroline A." last="Sewry">Caroline A. Sewry</name><affiliation><nlm:aff id="aff21">Dubowitz Neuromuscular Centre, UCL Institute of Child Health and Great Ormond Street Hospital for Children, London WC1N 1EH, UK</nlm:aff></affiliation></author><author><name sortKey="Manzur, Adnan" sort="Manzur, Adnan" uniqKey="Manzur A" first="Adnan" last="Manzur">Adnan Manzur</name><affiliation><nlm:aff id="aff21">Dubowitz Neuromuscular Centre, UCL Institute of Child Health and Great Ormond Street Hospital for Children, London WC1N 1EH, UK</nlm:aff></affiliation></author><author><name sortKey="Muntoni, Francesco" sort="Muntoni, Francesco" uniqKey="Muntoni F" first="Francesco" last="Muntoni">Francesco Muntoni</name><affiliation><nlm:aff id="aff21">Dubowitz Neuromuscular Centre, UCL Institute of Child Health and Great Ormond Street Hospital for Children, London WC1N 1EH, UK</nlm:aff></affiliation></author><author><name sortKey="Clarke, Nigel F" sort="Clarke, Nigel F" uniqKey="Clarke N" first="Nigel F." last="Clarke">Nigel F. Clarke</name><affiliation><nlm:aff id="aff22">Institute for Neuroscience and Muscle Research, Children’s Hospital at Westmead, Sydney 2145, Australia</nlm:aff></affiliation></author><author><name sortKey="North, Kathryn N" sort="North, Kathryn N" uniqKey="North K" first="Kathryn N." last="North">Kathryn N. North</name><affiliation><nlm:aff id="aff23">Murdoch Childrens Research Institute, The Royal Children’s Hospital, Parkville, Victoria 3052, Australia</nlm:aff></affiliation></author><author><name sortKey="Bertini, Enrico" sort="Bertini, Enrico" uniqKey="Bertini E" first="Enrico" last="Bertini">Enrico Bertini</name><affiliation><nlm:aff id="aff24">Unit of Neuromuscular Disorders, Bambino Gesù Children’s Hospital, Rome, Lazio 00165, Italy</nlm:aff></affiliation></author><author><name sortKey="Nevo, Yoram" sort="Nevo, Yoram" uniqKey="Nevo Y" first="Yoram" last="Nevo">Yoram Nevo</name><affiliation><nlm:aff id="aff25">Neuropediatric Unit, Hadassah Medical Center, Hebrew University of Jerusalem, Jerusalem 91240, Israel</nlm:aff></affiliation></author><author><name sortKey="Willichowski, Ekkhard" sort="Willichowski, Ekkhard" uniqKey="Willichowski E" first="Ekkhard" last="Willichowski">Ekkhard Willichowski</name><affiliation><nlm:aff id="aff26">Department of Pediatrics and Pediatric Neurology, University Medicine Göttingen, Göttingen 37075, Germany</nlm:aff></affiliation></author><author><name sortKey="Silberg, Inger E" sort="Silberg, Inger E" uniqKey="Silberg I" first="Inger E." last="Silberg">Inger E. Silberg</name><affiliation><nlm:aff id="aff27">Neonatal Intensive Care Unit, Department of Pediatric Research, Women and Children’s Division, Oslo University Hospital Rikshospitalet, Oslo 0424, Norway</nlm:aff></affiliation></author><author><name sortKey="Topaloglu, Haluk" sort="Topaloglu, Haluk" uniqKey="Topaloglu H" first="Haluk" last="Topaloglu">Haluk Topaloglu</name><affiliation><nlm:aff id="aff17">Department of Pediatric Neurology, Hacettepe University Children’s Hospital, Ankara 06100, Turkey</nlm:aff></affiliation></author><author><name sortKey="Beggs, Alan H" sort="Beggs, Alan H" uniqKey="Beggs A" first="Alan H." last="Beggs">Alan H. Beggs</name><affiliation><nlm:aff id="aff11">The Manton Center for Orphan Disease Research, Genetics and Genomics, Boston Children’s Hospital and Harvard Medical School, Boston MA, 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Allcock, Richard J N" sort="Allcock, Richard J N" uniqKey="Allcock R" first="Richard J. N." last="Allcock">Richard J. N. Allcock</name><affiliation><nlm:aff id="aff14">Lotterywest State Biomedical Facility Genomics and School of Pathology and Laboratory Medicine, University of Western Australia, Perth, Western Australia 6000, Australia</nlm:aff></affiliation></author><author><name sortKey="Nishino, Ichizo" sort="Nishino, Ichizo" uniqKey="Nishino I" first="Ichizo" last="Nishino">Ichizo Nishino</name><affiliation><nlm:aff id="aff5">Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo 187-8502, Japan</nlm:aff></affiliation></author><author><name sortKey="Wallgren Pettersson, Carina" sort="Wallgren Pettersson, Carina" uniqKey="Wallgren Pettersson C" first="Carina" last="Wallgren-Pettersson">Carina Wallgren-Pettersson</name><affiliation><nlm:aff id="aff3">The Folkhälsan Institute of Genetics, Samfundet Folkhälsan, Biomedicum Helsinki, PB 63 (Haartmaninkatu 8), University of Helsinki, Helsinki 00014, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki 00014, Finland</nlm:aff></affiliation></author><author><name sortKey="Matsumoto, Naomichi" sort="Matsumoto, Naomichi" uniqKey="Matsumoto N" first="Naomichi" last="Matsumoto">Naomichi Matsumoto</name><affiliation><nlm:aff id="aff2">Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan</nlm:aff></affiliation></author><author><name sortKey="Laing, Nigel G" sort="Laing, Nigel G" uniqKey="Laing N" first="Nigel G." last="Laing">Nigel G. Laing</name><affiliation><nlm:aff id="aff1">Western Australian Institute for Medical Research and the Centre for Medical Research, University of Western Australia, Nedlands, Western Australia 6009, Australia</nlm:aff></affiliation></author></analytic><series><title level="j">American Journal of Human Genetics</title><idno type="ISSN">0002-9297</idno><idno type="eISSN">1537-6605</idno><imprint><date when="2013">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Nemaline myopathy (NEM) is a common congenital myopathy. At the very severe end of the NEM clinical spectrum are genetically unresolved cases of autosomal-recessive fetal akinesia sequence. We studied a multinational cohort of 143 severe-NEM-affected families lacking genetic diagnosis. We performed whole-exome sequencing of six families and targeted gene sequencing of additional families. We identified 19 mutations in <italic>KLHL40</italic> (kelch-like family member 40) in 28 apparently unrelated NEM kindreds of various ethnicities. Accounting for up to 28% of the tested individuals in the Japanese cohort, <italic>KLHL40</italic> mutations were found to be the most common cause of this severe form of NEM. Clinical features of affected individuals were severe and distinctive and included fetal akinesia or hypokinesia and contractures, fractures, respiratory failure, and swallowing difficulties at birth. Molecular modeling suggested that the missense substitutions would destabilize the protein. Protein studies showed that KLHL40 is a striated-muscle-specific protein that is absent in <italic>KLHL40</italic>-associated NEM skeletal muscle. In zebrafish, <italic>klhl40a</italic> and <italic>klhl40b</italic> expression is largely confined to the myotome and skeletal muscle, and knockdown of these isoforms results in disruption of muscle structure and loss of movement. We identified <italic>KLHL40</italic> mutations as a frequent cause of severe autosomal-recessive NEM and showed that it plays a key role in muscle development and function. Screening of <italic>KLHL40</italic> should be a priority in individuals who are affected by autosomal-recessive NEM and who present with prenatal symptoms and/or contractures and in all Japanese individuals with severe NEM.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Am J Hum Genet</journal-id><journal-id journal-id-type="iso-abbrev">Am. J. Hum. Genet</journal-id><journal-title-group><journal-title>American Journal of Human Genetics</journal-title></journal-title-group><issn pub-type="ppub">0002-9297</issn><issn pub-type="epub">1537-6605</issn><publisher><publisher-name>Elsevier</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">23746549</article-id><article-id pub-id-type="pmc">3710748</article-id><article-id pub-id-type="publisher-id">AJHG1432</article-id><article-id pub-id-type="doi">10.1016/j.ajhg.2013.05.004</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Mutations in <italic>KLHL40</italic> Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Ravenscroft</surname><given-names>Gianina</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="fn1" ref-type="fn">28</xref></contrib><contrib contrib-type="author"><name><surname>Miyatake</surname><given-names>Satoko</given-names></name><xref rid="aff2" ref-type="aff">2</xref><xref rid="fn1" ref-type="fn">28</xref></contrib><contrib contrib-type="author"><name><surname>Lehtokari</surname><given-names>Vilma-Lotta</given-names></name><xref rid="aff3" ref-type="aff">3</xref><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Todd</surname><given-names>Emily J.</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Vornanen</surname><given-names>Pauliina</given-names></name><xref rid="aff3" ref-type="aff">3</xref><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Yau</surname><given-names>Kyle S.</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Hayashi</surname><given-names>Yukiko K.</given-names></name><xref rid="aff5" ref-type="aff">5</xref></contrib><contrib contrib-type="author"><name><surname>Miyake</surname><given-names>Noriko</given-names></name><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Tsurusaki</surname><given-names>Yoshinori</given-names></name><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Doi</surname><given-names>Hiroshi</given-names></name><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Saitsu</surname><given-names>Hirotomo</given-names></name><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Osaka</surname><given-names>Hitoshi</given-names></name><xref rid="aff6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Yamashita</surname><given-names>Sumimasa</given-names></name><xref rid="aff6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Ohya</surname><given-names>Takashi</given-names></name><xref rid="aff7" ref-type="aff">7</xref></contrib><contrib contrib-type="author"><name><surname>Sakamoto</surname><given-names>Yuko</given-names></name><xref rid="aff7" ref-type="aff">7</xref></contrib><contrib contrib-type="author"><name><surname>Koshimizu</surname><given-names>Eriko</given-names></name><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Imamura</surname><given-names>Shintaro</given-names></name><xref rid="aff8" ref-type="aff">8</xref></contrib><contrib contrib-type="author"><name><surname>Yamashita</surname><given-names>Michiaki</given-names></name><xref rid="aff8" ref-type="aff">8</xref></contrib><contrib contrib-type="author"><name><surname>Ogata</surname><given-names>Kazuhiro</given-names></name><xref rid="aff9" ref-type="aff">9</xref></contrib><contrib contrib-type="author"><name><surname>Shiina</surname><given-names>Masaaki</given-names></name><xref rid="aff9" ref-type="aff">9</xref></contrib><contrib contrib-type="author"><name><surname>Bryson-Richardson</surname><given-names>Robert J.</given-names></name><xref rid="aff10" ref-type="aff">10</xref></contrib><contrib contrib-type="author"><name><surname>Vaz</surname><given-names>Raquel</given-names></name><xref rid="aff10" ref-type="aff">10</xref></contrib><contrib contrib-type="author"><name><surname>Ceyhan</surname><given-names>Ozge</given-names></name><xref rid="aff11" ref-type="aff">11</xref></contrib><contrib contrib-type="author"><name><surname>Brownstein</surname><given-names>Catherine A.</given-names></name><xref rid="aff11" ref-type="aff">11</xref></contrib><contrib contrib-type="author"><name><surname>Swanson</surname><given-names>Lindsay C.</given-names></name><xref rid="aff11" ref-type="aff">11</xref></contrib><contrib contrib-type="author"><name><surname>Monnot</surname><given-names>Sophie</given-names></name><xref rid="aff12" ref-type="aff">12</xref></contrib><contrib contrib-type="author"><name><surname>Romero</surname><given-names>Norma B.</given-names></name><xref rid="aff13" ref-type="aff">13</xref></contrib><contrib contrib-type="author"><name><surname>Amthor</surname><given-names>Helge</given-names></name><xref rid="aff12" ref-type="aff">12</xref></contrib><contrib contrib-type="author"><name><surname>Kresoje</surname><given-names>Nina</given-names></name><xref rid="aff14" ref-type="aff">14</xref></contrib><contrib contrib-type="author"><name><surname>Sivadorai</surname><given-names>Padma</given-names></name><xref rid="aff15" ref-type="aff">15</xref></contrib><contrib contrib-type="author"><name><surname>Kiraly-Borri</surname><given-names>Cathy</given-names></name><xref rid="aff16" ref-type="aff">16</xref></contrib><contrib contrib-type="author"><name><surname>Haliloglu</surname><given-names>Goknur</given-names></name><xref rid="aff17" ref-type="aff">17</xref></contrib><contrib contrib-type="author"><name><surname>Talim</surname><given-names>Beril</given-names></name><xref rid="aff17" ref-type="aff">17</xref></contrib><contrib contrib-type="author"><name><surname>Orhan</surname><given-names>Diclehan</given-names></name><xref rid="aff18" ref-type="aff">18</xref></contrib><contrib contrib-type="author"><name><surname>Kale</surname><given-names>Gulsev</given-names></name><xref rid="aff18" ref-type="aff">18</xref></contrib><contrib contrib-type="author"><name><surname>Charles</surname><given-names>Adrian K.</given-names></name><xref rid="aff19" ref-type="aff">19</xref></contrib><contrib contrib-type="author"><name><surname>Fabian</surname><given-names>Victoria A.</given-names></name><xref rid="aff15" ref-type="aff">15</xref></contrib><contrib contrib-type="author"><name><surname>Davis</surname><given-names>Mark R.</given-names></name><xref rid="aff15" ref-type="aff">15</xref></contrib><contrib contrib-type="author"><name><surname>Lammens</surname><given-names>Martin</given-names></name><xref rid="aff20" ref-type="aff">20</xref></contrib><contrib contrib-type="author"><name><surname>Sewry</surname><given-names>Caroline A.</given-names></name><xref rid="aff21" ref-type="aff">21</xref></contrib><contrib contrib-type="author"><name><surname>Manzur</surname><given-names>Adnan</given-names></name><xref rid="aff21" ref-type="aff">21</xref></contrib><contrib contrib-type="author"><name><surname>Muntoni</surname><given-names>Francesco</given-names></name><xref rid="aff21" ref-type="aff">21</xref></contrib><contrib contrib-type="author"><name><surname>Clarke</surname><given-names>Nigel F.</given-names></name><xref rid="aff22" ref-type="aff">22</xref></contrib><contrib contrib-type="author"><name><surname>North</surname><given-names>Kathryn N.</given-names></name><xref rid="aff23" ref-type="aff">23</xref></contrib><contrib contrib-type="author"><name><surname>Bertini</surname><given-names>Enrico</given-names></name><xref rid="aff24" ref-type="aff">24</xref></contrib><contrib contrib-type="author"><name><surname>Nevo</surname><given-names>Yoram</given-names></name><xref rid="aff25" ref-type="aff">25</xref></contrib><contrib contrib-type="author"><name><surname>Willichowski</surname><given-names>Ekkhard</given-names></name><xref rid="aff26" ref-type="aff">26</xref></contrib><contrib contrib-type="author"><name><surname>Silberg</surname><given-names>Inger E.</given-names></name><xref rid="aff27" ref-type="aff">27</xref></contrib><contrib contrib-type="author"><name><surname>Topaloglu</surname><given-names>Haluk</given-names></name><xref rid="aff17" ref-type="aff">17</xref></contrib><contrib contrib-type="author"><name><surname>Beggs</surname><given-names>Alan H.</given-names></name><xref rid="aff11" ref-type="aff">11</xref></contrib><contrib contrib-type="author"><name><surname>Allcock</surname><given-names>Richard J.N.</given-names></name><xref rid="aff14" ref-type="aff">14</xref></contrib><contrib contrib-type="author"><name><surname>Nishino</surname><given-names>Ichizo</given-names></name><xref rid="aff5" ref-type="aff">5</xref></contrib><contrib contrib-type="author"><name><surname>Wallgren-Pettersson</surname><given-names>Carina</given-names></name><xref rid="aff3" ref-type="aff">3</xref><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Matsumoto</surname><given-names>Naomichi</given-names></name><email>naomat@yokohama-cu.ac.jp</email><xref rid="aff2" ref-type="aff">2</xref><xref rid="fn2" ref-type="fn">29</xref><xref rid="cor2" ref-type="corresp">∗∗</xref></contrib><contrib contrib-type="author"><name><surname>Laing</surname><given-names>Nigel G.</given-names></name><email>nigel.laing@uwa.edu.au</email><xref rid="aff1" ref-type="aff">1</xref><xref rid="fn2" ref-type="fn">29</xref><xref rid="cor1" ref-type="corresp">∗</xref></contrib></contrib-group><aff id="aff1"><label>1</label>Western Australian Institute for Medical Research and the Centre for Medical Research, University of Western Australia, Nedlands, Western Australia 6009, Australia</aff><aff id="aff2"><label>2</label>Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan</aff><aff id="aff3"><label>3</label>The Folkhälsan Institute of Genetics, Samfundet Folkhälsan, Biomedicum Helsinki, PB 63 (Haartmaninkatu 8), University of Helsinki, Helsinki 00014, Finland</aff><aff id="aff4"><label>4</label>Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki 00014, Finland</aff><aff id="aff5"><label>5</label>Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo 187-8502, Japan</aff><aff id="aff6"><label>6</label>Division of Neurology, Clinical Research Institute, Kanagawa Children’s Medical Center, Yokohama 232-8555, Japan</aff><aff id="aff7"><label>7</label>Department of Pediatrics, Odawara Municipal Hospital, Odawara 232-8558, Japan</aff><aff id="aff8"><label>8</label>National Research Institute of Fisheries Science, Yokohama 236-8648, Japan</aff><aff id="aff9"><label>9</label>Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan</aff><aff id="aff10"><label>10</label>School of Biological Sciences, Monash University, Victoria 3800, Australia</aff><aff id="aff11"><label>11</label>The Manton Center for Orphan Disease Research, Genetics and Genomics, Boston Children’s Hospital and Harvard Medical School, Boston MA, 02115, USA</aff><aff id="aff12"><label>12</label>Service Génétique Médicale, Hôpital Necker-Enfants Malades, Université Paris Descartes, Paris 75015, France</aff><aff id="aff13"><label>13</label>Unité de Morphologie Neuromusculaire, Institut de Myologie, Institut National de la Santé et de la Recherche Médicale, Paris 75651, France</aff><aff id="aff14"><label>14</label>Lotterywest State Biomedical Facility Genomics and School of Pathology and Laboratory Medicine, University of Western Australia, Perth, Western Australia 6000, Australia</aff><aff id="aff15"><label>15</label>Department of Anatomical Pathology, Royal Perth Hospital, Perth, Western Australia 6000, Australia</aff><aff id="aff16"><label>16</label>Genetic Services of Western Australia, Princess Margaret Hospital for Children and King Edward Memorial Hospital for Women, Subiaco, Western Australia 6008, Australia</aff><aff id="aff17"><label>17</label>Department of Pediatric Neurology, Hacettepe University Children’s Hospital, Ankara 06100, Turkey</aff><aff id="aff18"><label>18</label>Department of Pediatric Pathology, Hacettepe University Children’s Hospital, Ankara 06100, Turkey</aff><aff id="aff19"><label>19</label>School of Women’s and Infants’ Health, University of Western Australia, Crawley, Western Australia 6009, Australia</aff><aff id="aff20"><label>20</label>Department of Pathology, University Hospital Antwerp, Antwerp 2650, Belgium</aff><aff id="aff21"><label>21</label>Dubowitz Neuromuscular Centre, UCL Institute of Child Health and Great Ormond Street Hospital for Children, London WC1N 1EH, UK</aff><aff id="aff22"><label>22</label>Institute for Neuroscience and Muscle Research, Children’s Hospital at Westmead, Sydney 2145, Australia</aff><aff id="aff23"><label>23</label>Murdoch Childrens Research Institute, The Royal Children’s Hospital, Parkville, Victoria 3052, Australia</aff><aff id="aff24"><label>24</label>Unit of Neuromuscular Disorders, Bambino Gesù Children’s Hospital, Rome, Lazio 00165, Italy</aff><aff id="aff25"><label>25</label>Neuropediatric Unit, Hadassah Medical Center, Hebrew University of Jerusalem, Jerusalem 91240, Israel</aff><aff id="aff26"><label>26</label>Department of Pediatrics and Pediatric Neurology, University Medicine Göttingen, Göttingen 37075, Germany</aff><aff id="aff27"><label>27</label>Neonatal Intensive Care Unit, Department of Pediatric Research, Women and Children’s Division, Oslo University Hospital Rikshospitalet, Oslo 0424, Norway</aff><author-notes><corresp id="cor1"><label>∗</label>Corresponding author <email>nigel.laing@uwa.edu.au</email></corresp><corresp id="cor2"><label>∗∗</label>Corresponding author <email>naomat@yokohama-cu.ac.jp</email></corresp><fn id="fn1"><label>28</label><p>These authors contributed equally to this work</p></fn><fn id="fn2"><label>29</label><p>These authors contributed equally to this work</p></fn></author-notes><pub-date pub-type="ppub"><day>11</day><month>7</month><year>2013</year></pub-date><volume>93</volume><issue>1</issue><fpage>6</fpage><lpage>18</lpage><history><date date-type="received"><day>15</day><month>3</month><year>2013</year></date><date date-type="rev-recd"><day>25</day><month>4</month><year>2013</year></date><date date-type="accepted"><day>3</day><month>5</month><year>2013</year></date></history><permissions><copyright-statement>© 2013 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved.</copyright-statement><copyright-year>2013</copyright-year><copyright-holder>The American Society of Human Genetics</copyright-holder></permissions><abstract><p>Nemaline myopathy (NEM) is a common congenital myopathy. At the very severe end of the NEM clinical spectrum are genetically unresolved cases of autosomal-recessive fetal akinesia sequence. We studied a multinational cohort of 143 severe-NEM-affected families lacking genetic diagnosis. We performed whole-exome sequencing of six families and targeted gene sequencing of additional families. We identified 19 mutations in <italic>KLHL40</italic> (kelch-like family member 40) in 28 apparently unrelated NEM kindreds of various ethnicities. Accounting for up to 28% of the tested individuals in the Japanese cohort, <italic>KLHL40</italic> mutations were found to be the most common cause of this severe form of NEM. Clinical features of affected individuals were severe and distinctive and included fetal akinesia or hypokinesia and contractures, fractures, respiratory failure, and swallowing difficulties at birth. Molecular modeling suggested that the missense substitutions would destabilize the protein. Protein studies showed that KLHL40 is a striated-muscle-specific protein that is absent in <italic>KLHL40</italic>-associated NEM skeletal muscle. In zebrafish, <italic>klhl40a</italic> and <italic>klhl40b</italic> expression is largely confined to the myotome and skeletal muscle, and knockdown of these isoforms results in disruption of muscle structure and loss of movement. We identified <italic>KLHL40</italic> mutations as a frequent cause of severe autosomal-recessive NEM and showed that it plays a key role in muscle development and function. Screening of <italic>KLHL40</italic> should be a priority in individuals who are affected by autosomal-recessive NEM and who present with prenatal symptoms and/or contractures and in all Japanese individuals with severe NEM.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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