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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Mutation Update and Genotype–Phenotype Correlations of Novel and Previously Described Mutations in <italic>TPM2</italic> and <italic>TPM3</italic> Causing Congenital Myopathies</title><author><name sortKey="Marttila, Minttu" sort="Marttila, Minttu" uniqKey="Marttila M" first="Minttu" last="Marttila">Minttu Marttila</name><affiliation><nlm:aff id="A1">The Folkhälsan Institute of Genetics and the Department of Medical Genetics, University of Helsinki, Haartman Institute, Biomedicum Helsinki, Finland</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="A1">The Folkhälsan Institute of Genetics and the Department of Medical Genetics, University of Helsinki, Haartman Institute, Biomedicum Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Marston, Steven" sort="Marston, Steven" uniqKey="Marston S" first="Steven" last="Marston">Steven Marston</name><affiliation><nlm:aff id="A2">National Heart and Lung Institute, Imperial College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Nyman, Tuula A" sort="Nyman, Tuula A" uniqKey="Nyman T" first="Tuula A." last="Nyman">Tuula A. Nyman</name><affiliation><nlm:aff id="A3">Institute of Biotechnology, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Barnerias, Christine" sort="Barnerias, Christine" uniqKey="Barnerias C" first="Christine" last="Barnerias">Christine Barnerias</name><affiliation><nlm:aff id="A4">Cliniques des maladies du développement CHU Paris, Paris, France</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="A5">Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts</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="A6">Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesu’ Children’s Research Hospital, Rome, Italy</nlm:aff></affiliation></author><author><name sortKey="Ceyhan Birsoy, Oozge" sort="Ceyhan Birsoy, Oozge" uniqKey="Ceyhan Birsoy O" first="Oözge" last="Ceyhan-Birsoy">Oözge Ceyhan-Birsoy</name><affiliation><nlm:aff id="A5">Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts</nlm:aff></affiliation></author><author><name sortKey="Cintas, Pascal" sort="Cintas, Pascal" uniqKey="Cintas P" first="Pascal" last="Cintas">Pascal Cintas</name><affiliation><nlm:aff id="A7">Centre de reference de pathologie neuromusculaire, CHU Toulouse, Toulouse, France</nlm:aff></affiliation></author><author><name sortKey="Gerard, Marion" sort="Gerard, Marion" uniqKey="Gerard M" first="Marion" last="Gerard">Marion Gerard</name><affiliation><nlm:aff id="A8">Service de Génétique, CHU Clémenceau, Caen, France</nlm:aff></affiliation></author><author><name sortKey="Gilbert Dussardier, Brigitte" sort="Gilbert Dussardier, Brigitte" uniqKey="Gilbert Dussardier B" first="Brigitte" last="Gilbert-Dussardier">Brigitte Gilbert-Dussardier</name><affiliation><nlm:aff id="A9">Genetics, University Hospital La Miletrie, Poitiers, France</nlm:aff></affiliation></author><author><name sortKey="Hogue, Jacob S" sort="Hogue, Jacob S" uniqKey="Hogue J" first="Jacob S." last="Hogue">Jacob S. Hogue</name><affiliation><nlm:aff id="A10">The Department of Pediatrics, San Antonio Military Medical Center, Houston, Texas</nlm:aff></affiliation></author><author><name sortKey="Longman, Cheryl" sort="Longman, Cheryl" uniqKey="Longman C" first="Cheryl" last="Longman">Cheryl Longman</name><affiliation><nlm:aff id="A11">West of Scotland Regional Genetics Service, Glasgow, UK</nlm:aff></affiliation></author><author><name sortKey="Eymard, Bruno" sort="Eymard, Bruno" uniqKey="Eymard B" first="Bruno" last="Eymard">Bruno Eymard</name><affiliation><nlm:aff id="A12">Centre de Référence de pathologie neuromusculaire Paris-Est, Groupe Hospitalier Pitié-Salpêtrière, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Frydman, Moshe" sort="Frydman, Moshe" uniqKey="Frydman M" first="Moshe" last="Frydman">Moshe Frydman</name><affiliation><nlm:aff id="A13">Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Aviv University, Tel Aviv, Israel</nlm:aff></affiliation></author><author><name sortKey="Kang, Peter B" sort="Kang, Peter B" uniqKey="Kang P" first="Peter B." last="Kang">Peter B. Kang</name><affiliation><nlm:aff id="A14">Department of Neurology, Boston Children’s Hospital and Harvard Medical School, Boston, Massachusetts</nlm:aff></affiliation></author><author><name sortKey="Klinge, Lars" sort="Klinge, Lars" uniqKey="Klinge L" first="Lars" last="Klinge">Lars Klinge</name><affiliation><nlm:aff id="A15">University Medical Centre Göttingen, Göttingen, Germany</nlm:aff></affiliation></author><author><name sortKey="Kolski, Hanna" sort="Kolski, Hanna" uniqKey="Kolski H" first="Hanna" last="Kolski">Hanna Kolski</name><affiliation><nlm:aff id="A16">Glenrose Rehabilitation Hospital, University of Alberta, Alberta, Canada</nlm:aff></affiliation></author><author><name sortKey="Lochmuller, Hans" sort="Lochmuller, Hans" uniqKey="Lochmuller H" first="Hans" last="Lochmüller">Hans Lochmüller</name><affiliation><nlm:aff id="A17">Institute of Genetic Medicine, Newcastle University, Tyne and Wear, UK</nlm:aff></affiliation></author><author><name sortKey="Magy, Laurent" sort="Magy, Laurent" uniqKey="Magy L" first="Laurent" last="Magy">Laurent Magy</name><affiliation><nlm:aff id="A18">National Referral Center for Rare Peripheral Neuropathies, Centre Hospitalier Universitaire, Limoges, France</nlm:aff></affiliation></author><author><name sortKey="Manel, Veronique" sort="Manel, Veronique" uniqKey="Manel V" first="Véronique" last="Manel">Véronique Manel</name><affiliation><nlm:aff id="A19">Centre de Référence des Maladies Neuromusculaires Rhône-Alpes, Hôpital Femme-Mère-Enfant, Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Mayer, Michele" sort="Mayer, Michele" uniqKey="Mayer M" first="Michèle" last="Mayer">Michèle Mayer</name><affiliation><nlm:aff id="A20">Centre de Référence et de Suivi des Maladies Neuromusculaires, Hôpital Trousseau, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Mercuri, Eugenio" sort="Mercuri, Eugenio" uniqKey="Mercuri E" first="Eugenio" last="Mercuri">Eugenio Mercuri</name><affiliation><nlm:aff id="A21">Pediatric Neurology, Catholic University, Rome, Italy</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="A22">Murdoch Children’s Research Institute, Melbourne, Australia</nlm:aff></affiliation></author><author><name sortKey="Peudenier Robert, Sylviane" sort="Peudenier Robert, Sylviane" uniqKey="Peudenier Robert S" first="Sylviane" last="Peudenier-Robert">Sylviane Peudenier-Robert</name><affiliation><nlm:aff id="A23">Pôle de la Femme, de la Mère et de l’Enfant, Centre Hospitalier Régional Universitaire Brest, Brest, France</nlm:aff></affiliation></author><author><name sortKey="Pihko, Helena" sort="Pihko, Helena" uniqKey="Pihko H" first="Helena" last="Pihko">Helena Pihko</name><affiliation><nlm:aff id="A24">University of Helsinki Central Hospital, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Probst, Frank J" sort="Probst, Frank J" uniqKey="Probst F" first="Frank J." last="Probst">Frank J. Probst</name><affiliation><nlm:aff id="A25">Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas</nlm:aff></affiliation></author><author><name sortKey="Reisin, Ricardo" sort="Reisin, Ricardo" uniqKey="Reisin R" first="Ricardo" last="Reisin">Ricardo Reisin</name><affiliation><nlm:aff id="A26">Hospital Británico de Buenos Aires, Buenos Aires, Argentina</nlm:aff></affiliation></author><author><name sortKey="Stewart, Willie" sort="Stewart, Willie" uniqKey="Stewart W" first="Willie" last="Stewart">Willie Stewart</name><affiliation><nlm:aff id="A27">Department of Pathology, Southern General Hospital, Glasgow, UK</nlm:aff></affiliation></author><author><name sortKey="Taratuto, Ana Lia" sort="Taratuto, Ana Lia" uniqKey="Taratuto A" first="Ana Lia" last="Taratuto">Ana Lia Taratuto</name><affiliation><nlm:aff id="A28">Department of Neuropathology, Institute for Neurological Research, FLENI, Buenos Aires, Argentina</nlm:aff></affiliation></author><author><name sortKey="De Visser, Marianne" sort="De Visser, Marianne" uniqKey="De Visser M" first="Marianne" last="De Visser">Marianne De Visser</name><affiliation><nlm:aff id="A29">Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Wilichowski, Ekkehard" sort="Wilichowski, Ekkehard" uniqKey="Wilichowski E" first="Ekkehard" last="Wilichowski">Ekkehard Wilichowski</name><affiliation><nlm:aff id="A30">Department of Pediatrics and Pediatric Neurology, Georg August University, Göttingen, Germany</nlm:aff></affiliation></author><author><name sortKey="Winer, John" sort="Winer, John" uniqKey="Winer J" first="John" last="Winer">John Winer</name><affiliation><nlm:aff id="A31">University Hospital Birmingham, Queen Elizabeth Hospital, Birmingham, UK</nlm:aff></affiliation></author><author><name sortKey="Nowak, Kristen" sort="Nowak, Kristen" uniqKey="Nowak K" first="Kristen" last="Nowak">Kristen Nowak</name><affiliation><nlm:aff id="A32">Molecular Neurogenetics Laboratory, Centre for Medical Research, University of Western Australia, Nedlands, Australia</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="A32">Molecular Neurogenetics Laboratory, Centre for Medical Research, University of Western Australia, Nedlands, Australia</nlm:aff></affiliation></author><author><name sortKey="Winder, Tom L" sort="Winder, Tom L" uniqKey="Winder T" first="Tom L." last="Winder">Tom L. Winder</name><affiliation><nlm:aff id="A33">PreventionGenetics, Marshfield, Massachusetts</nlm:aff></affiliation></author><author><name sortKey="Monnier, Nicole" sort="Monnier, Nicole" uniqKey="Monnier N" first="Nicole" last="Monnier">Nicole Monnier</name><affiliation><nlm:aff id="A34">Laboratoire de Biochimie et Génétique Moléculaire, IBP-CHU Grenoble, Grenoble, France</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="A35">INMR, The Children’s Hospital at Westmead and Sydney Medical School, University of Sydney, Sydney, Australia</nlm:aff></affiliation></author><author><name sortKey="Pelin, Katarina" sort="Pelin, Katarina" uniqKey="Pelin K" first="Katarina" last="Pelin">Katarina Pelin</name><affiliation><nlm:aff id="A36">Division of Genetics, Department of Biosciences, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Gronholm, Mikaela" sort="Gronholm, Mikaela" uniqKey="Gronholm M" first="Mikaela" last="Grönholm">Mikaela Grönholm</name><affiliation><nlm:aff id="A37">Division of Biochemistry and Biotechnology, Department of Biosciences, University of Helsinki, Finland</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="A1">The Folkhälsan Institute of Genetics and the Department of Medical Genetics, University of Helsinki, Haartman Institute, Biomedicum Helsinki, Finland</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">24692096</idno><idno type="pmc">4200603</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4200603</idno><idno type="RBID">PMC:4200603</idno><idno type="doi">10.1002/humu.22554</idno><date when="2014">2014</date><idno type="wicri:Area/Pmc/Corpus">002118</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002118</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Mutation Update and Genotype–Phenotype Correlations of Novel and Previously Described Mutations in <italic>TPM2</italic> and <italic>TPM3</italic> Causing Congenital Myopathies</title><author><name sortKey="Marttila, Minttu" sort="Marttila, Minttu" uniqKey="Marttila M" first="Minttu" last="Marttila">Minttu Marttila</name><affiliation><nlm:aff id="A1">The Folkhälsan Institute of Genetics and the Department of Medical Genetics, University of Helsinki, Haartman Institute, Biomedicum Helsinki, Finland</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="A1">The Folkhälsan Institute of Genetics and the Department of Medical Genetics, University of Helsinki, Haartman Institute, Biomedicum Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Marston, Steven" sort="Marston, Steven" uniqKey="Marston S" first="Steven" last="Marston">Steven Marston</name><affiliation><nlm:aff id="A2">National Heart and Lung Institute, Imperial College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Nyman, Tuula A" sort="Nyman, Tuula A" uniqKey="Nyman T" first="Tuula A." last="Nyman">Tuula A. Nyman</name><affiliation><nlm:aff id="A3">Institute of Biotechnology, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Barnerias, Christine" sort="Barnerias, Christine" uniqKey="Barnerias C" first="Christine" last="Barnerias">Christine Barnerias</name><affiliation><nlm:aff id="A4">Cliniques des maladies du développement CHU Paris, Paris, France</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="A5">Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts</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="A6">Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesu’ Children’s Research Hospital, Rome, Italy</nlm:aff></affiliation></author><author><name sortKey="Ceyhan Birsoy, Oozge" sort="Ceyhan Birsoy, Oozge" uniqKey="Ceyhan Birsoy O" first="Oözge" last="Ceyhan-Birsoy">Oözge Ceyhan-Birsoy</name><affiliation><nlm:aff id="A5">Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts</nlm:aff></affiliation></author><author><name sortKey="Cintas, Pascal" sort="Cintas, Pascal" uniqKey="Cintas P" first="Pascal" last="Cintas">Pascal Cintas</name><affiliation><nlm:aff id="A7">Centre de reference de pathologie neuromusculaire, CHU Toulouse, Toulouse, France</nlm:aff></affiliation></author><author><name sortKey="Gerard, Marion" sort="Gerard, Marion" uniqKey="Gerard M" first="Marion" last="Gerard">Marion Gerard</name><affiliation><nlm:aff id="A8">Service de Génétique, CHU Clémenceau, Caen, France</nlm:aff></affiliation></author><author><name sortKey="Gilbert Dussardier, Brigitte" sort="Gilbert Dussardier, Brigitte" uniqKey="Gilbert Dussardier B" first="Brigitte" last="Gilbert-Dussardier">Brigitte Gilbert-Dussardier</name><affiliation><nlm:aff id="A9">Genetics, University Hospital La Miletrie, Poitiers, France</nlm:aff></affiliation></author><author><name sortKey="Hogue, Jacob S" sort="Hogue, Jacob S" uniqKey="Hogue J" first="Jacob S." last="Hogue">Jacob S. Hogue</name><affiliation><nlm:aff id="A10">The Department of Pediatrics, San Antonio Military Medical Center, Houston, Texas</nlm:aff></affiliation></author><author><name sortKey="Longman, Cheryl" sort="Longman, Cheryl" uniqKey="Longman C" first="Cheryl" last="Longman">Cheryl Longman</name><affiliation><nlm:aff id="A11">West of Scotland Regional Genetics Service, Glasgow, UK</nlm:aff></affiliation></author><author><name sortKey="Eymard, Bruno" sort="Eymard, Bruno" uniqKey="Eymard B" first="Bruno" last="Eymard">Bruno Eymard</name><affiliation><nlm:aff id="A12">Centre de Référence de pathologie neuromusculaire Paris-Est, Groupe Hospitalier Pitié-Salpêtrière, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Frydman, Moshe" sort="Frydman, Moshe" uniqKey="Frydman M" first="Moshe" last="Frydman">Moshe Frydman</name><affiliation><nlm:aff id="A13">Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Aviv University, Tel Aviv, Israel</nlm:aff></affiliation></author><author><name sortKey="Kang, Peter B" sort="Kang, Peter B" uniqKey="Kang P" first="Peter B." last="Kang">Peter B. Kang</name><affiliation><nlm:aff id="A14">Department of Neurology, Boston Children’s Hospital and Harvard Medical School, Boston, Massachusetts</nlm:aff></affiliation></author><author><name sortKey="Klinge, Lars" sort="Klinge, Lars" uniqKey="Klinge L" first="Lars" last="Klinge">Lars Klinge</name><affiliation><nlm:aff id="A15">University Medical Centre Göttingen, Göttingen, Germany</nlm:aff></affiliation></author><author><name sortKey="Kolski, Hanna" sort="Kolski, Hanna" uniqKey="Kolski H" first="Hanna" last="Kolski">Hanna Kolski</name><affiliation><nlm:aff id="A16">Glenrose Rehabilitation Hospital, University of Alberta, Alberta, Canada</nlm:aff></affiliation></author><author><name sortKey="Lochmuller, Hans" sort="Lochmuller, Hans" uniqKey="Lochmuller H" first="Hans" last="Lochmüller">Hans Lochmüller</name><affiliation><nlm:aff id="A17">Institute of Genetic Medicine, Newcastle University, Tyne and Wear, UK</nlm:aff></affiliation></author><author><name sortKey="Magy, Laurent" sort="Magy, Laurent" uniqKey="Magy L" first="Laurent" last="Magy">Laurent Magy</name><affiliation><nlm:aff id="A18">National Referral Center for Rare Peripheral Neuropathies, Centre Hospitalier Universitaire, Limoges, France</nlm:aff></affiliation></author><author><name sortKey="Manel, Veronique" sort="Manel, Veronique" uniqKey="Manel V" first="Véronique" last="Manel">Véronique Manel</name><affiliation><nlm:aff id="A19">Centre de Référence des Maladies Neuromusculaires Rhône-Alpes, Hôpital Femme-Mère-Enfant, Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Mayer, Michele" sort="Mayer, Michele" uniqKey="Mayer M" first="Michèle" last="Mayer">Michèle Mayer</name><affiliation><nlm:aff id="A20">Centre de Référence et de Suivi des Maladies Neuromusculaires, Hôpital Trousseau, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Mercuri, Eugenio" sort="Mercuri, Eugenio" uniqKey="Mercuri E" first="Eugenio" last="Mercuri">Eugenio Mercuri</name><affiliation><nlm:aff id="A21">Pediatric Neurology, Catholic University, Rome, Italy</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="A22">Murdoch Children’s Research Institute, Melbourne, Australia</nlm:aff></affiliation></author><author><name sortKey="Peudenier Robert, Sylviane" sort="Peudenier Robert, Sylviane" uniqKey="Peudenier Robert S" first="Sylviane" last="Peudenier-Robert">Sylviane Peudenier-Robert</name><affiliation><nlm:aff id="A23">Pôle de la Femme, de la Mère et de l’Enfant, Centre Hospitalier Régional Universitaire Brest, Brest, France</nlm:aff></affiliation></author><author><name sortKey="Pihko, Helena" sort="Pihko, Helena" uniqKey="Pihko H" first="Helena" last="Pihko">Helena Pihko</name><affiliation><nlm:aff id="A24">University of Helsinki Central Hospital, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Probst, Frank J" sort="Probst, Frank J" uniqKey="Probst F" first="Frank J." last="Probst">Frank J. Probst</name><affiliation><nlm:aff id="A25">Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas</nlm:aff></affiliation></author><author><name sortKey="Reisin, Ricardo" sort="Reisin, Ricardo" uniqKey="Reisin R" first="Ricardo" last="Reisin">Ricardo Reisin</name><affiliation><nlm:aff id="A26">Hospital Británico de Buenos Aires, Buenos Aires, Argentina</nlm:aff></affiliation></author><author><name sortKey="Stewart, Willie" sort="Stewart, Willie" uniqKey="Stewart W" first="Willie" last="Stewart">Willie Stewart</name><affiliation><nlm:aff id="A27">Department of Pathology, Southern General Hospital, Glasgow, UK</nlm:aff></affiliation></author><author><name sortKey="Taratuto, Ana Lia" sort="Taratuto, Ana Lia" uniqKey="Taratuto A" first="Ana Lia" last="Taratuto">Ana Lia Taratuto</name><affiliation><nlm:aff id="A28">Department of Neuropathology, Institute for Neurological Research, FLENI, Buenos Aires, Argentina</nlm:aff></affiliation></author><author><name sortKey="De Visser, Marianne" sort="De Visser, Marianne" uniqKey="De Visser M" first="Marianne" last="De Visser">Marianne De Visser</name><affiliation><nlm:aff id="A29">Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Wilichowski, Ekkehard" sort="Wilichowski, Ekkehard" uniqKey="Wilichowski E" first="Ekkehard" last="Wilichowski">Ekkehard Wilichowski</name><affiliation><nlm:aff id="A30">Department of Pediatrics and Pediatric Neurology, Georg August University, Göttingen, Germany</nlm:aff></affiliation></author><author><name sortKey="Winer, John" sort="Winer, John" uniqKey="Winer J" first="John" last="Winer">John Winer</name><affiliation><nlm:aff id="A31">University Hospital Birmingham, Queen Elizabeth Hospital, Birmingham, UK</nlm:aff></affiliation></author><author><name sortKey="Nowak, Kristen" sort="Nowak, Kristen" uniqKey="Nowak K" first="Kristen" last="Nowak">Kristen Nowak</name><affiliation><nlm:aff id="A32">Molecular Neurogenetics Laboratory, Centre for Medical Research, University of Western Australia, Nedlands, Australia</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="A32">Molecular Neurogenetics Laboratory, Centre for Medical Research, University of Western Australia, Nedlands, Australia</nlm:aff></affiliation></author><author><name sortKey="Winder, Tom L" sort="Winder, Tom L" uniqKey="Winder T" first="Tom L." last="Winder">Tom L. Winder</name><affiliation><nlm:aff id="A33">PreventionGenetics, Marshfield, Massachusetts</nlm:aff></affiliation></author><author><name sortKey="Monnier, Nicole" sort="Monnier, Nicole" uniqKey="Monnier N" first="Nicole" last="Monnier">Nicole Monnier</name><affiliation><nlm:aff id="A34">Laboratoire de Biochimie et Génétique Moléculaire, IBP-CHU Grenoble, Grenoble, France</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="A35">INMR, The Children’s Hospital at Westmead and Sydney Medical School, University of Sydney, Sydney, Australia</nlm:aff></affiliation></author><author><name sortKey="Pelin, Katarina" sort="Pelin, Katarina" uniqKey="Pelin K" first="Katarina" last="Pelin">Katarina Pelin</name><affiliation><nlm:aff id="A36">Division of Genetics, Department of Biosciences, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Gronholm, Mikaela" sort="Gronholm, Mikaela" uniqKey="Gronholm M" first="Mikaela" last="Grönholm">Mikaela Grönholm</name><affiliation><nlm:aff id="A37">Division of Biochemistry and Biotechnology, Department of Biosciences, University of Helsinki, Finland</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="A1">The Folkhälsan Institute of Genetics and the Department of Medical Genetics, University of Helsinki, Haartman Institute, Biomedicum Helsinki, Finland</nlm:aff></affiliation></author></analytic><series><title level="j">Human mutation</title><idno type="ISSN">1059-7794</idno><idno type="eISSN">1098-1004</idno><imprint><date when="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P1">Mutations affecting skeletal muscle isoforms of the tropomyosin genes may cause nemaline myopathy, cap myopathy, core-rod myopathy, congenital fiber-type disproportion, distal arthrogryposes, and Escobar syndrome. We correlate the clinical picture of these diseases with novel (19) and previously reported (31) mutations of the <italic>TPM2</italic> and <italic>TPM3</italic> genes. Included are altogether 93 families: 53 with <italic>TPM2</italic> mutations and 40 with <italic>TPM3</italic> mutations. Thirty distinct pathogenic variants of <italic>TPM2</italic> and 20 of <italic>TPM3</italic> have been published or listed in the Leiden Open Variant Database (<ext-link ext-link-type="uri" xlink:href="http://www.dmd.nl/">http://www.dmd.nl/</ext-link>). Most are heterozygous changes associated with autosomal-dominant disease. Patients with <italic>TPM2</italic> mutations tended to present with milder symptoms than those with <italic>TPM3</italic> mutations, DA being present only in the <italic>TPM2</italic> group. Previous studies have shown that five of the mutations in <italic>TPM2</italic> and one in <italic>TPM3</italic> cause increased Ca<sup>2+</sup> sensitivity resulting in a hypercontractile molecular phenotype. Patients with hypercontractile phenotype more often had contractures of the limb joints (18/19) and jaw (6/19) than those with nonhypercontractile ones (2/22 and 1/22), whereas patients with the non-hypercontractile molecular phenotype more often (19/22) had axial contractures than the hypercontractile group (7/19). Our in silico predictions show that most mutations affect tropomyosin–actin association or tropomyosin head-to-tail binding.</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>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">9215429</journal-id><journal-id journal-id-type="pubmed-jr-id">2408</journal-id><journal-id journal-id-type="nlm-ta">Hum Mutat</journal-id><journal-id journal-id-type="iso-abbrev">Hum. Mutat.</journal-id><journal-title-group><journal-title>Human mutation</journal-title></journal-title-group><issn pub-type="ppub">1059-7794</issn><issn pub-type="epub">1098-1004</issn></journal-meta><article-meta><article-id pub-id-type="pmid">24692096</article-id><article-id pub-id-type="pmc">4200603</article-id><article-id pub-id-type="doi">10.1002/humu.22554</article-id><article-id pub-id-type="manuscript">NIHMS633432</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Mutation Update and Genotype–Phenotype Correlations of Novel and Previously Described Mutations in <italic>TPM2</italic> and <italic>TPM3</italic> Causing Congenital Myopathies</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Marttila</surname><given-names>Minttu</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Lehtokari</surname><given-names>Vilma-Lotta</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Marston</surname><given-names>Steven</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Nyman</surname><given-names>Tuula A.</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Barnerias</surname><given-names>Christine</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Beggs</surname><given-names>Alan H.</given-names></name><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Bertini</surname><given-names>Enrico</given-names></name><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Ceyhan-Birsoy</surname><given-names>OÖzge</given-names></name><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Cintas</surname><given-names>Pascal</given-names></name><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Gerard</surname><given-names>Marion</given-names></name><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author"><name><surname>Gilbert-Dussardier</surname><given-names>Brigitte</given-names></name><xref ref-type="aff" rid="A9">9</xref></contrib><contrib contrib-type="author"><name><surname>Hogue</surname><given-names>Jacob S.</given-names></name><xref ref-type="aff" rid="A10">10</xref></contrib><contrib contrib-type="author"><name><surname>Longman</surname><given-names>Cheryl</given-names></name><xref ref-type="aff" rid="A11">11</xref></contrib><contrib contrib-type="author"><name><surname>Eymard</surname><given-names>Bruno</given-names></name><xref ref-type="aff" rid="A12">12</xref></contrib><contrib contrib-type="author"><name><surname>Frydman</surname><given-names>Moshe</given-names></name><xref ref-type="aff" rid="A13">13</xref></contrib><contrib contrib-type="author"><name><surname>Kang</surname><given-names>Peter B.</given-names></name><xref ref-type="aff" rid="A14">14</xref></contrib><contrib contrib-type="author"><name><surname>Klinge</surname><given-names>Lars</given-names></name><xref ref-type="aff" rid="A15">15</xref></contrib><contrib contrib-type="author"><name><surname>Kolski</surname><given-names>Hanna</given-names></name><xref ref-type="aff" rid="A16">16</xref></contrib><contrib contrib-type="author"><name><surname>Lochmüller</surname><given-names>Hans</given-names></name><xref ref-type="aff" rid="A17">17</xref></contrib><contrib contrib-type="author"><name><surname>Magy</surname><given-names>Laurent</given-names></name><xref ref-type="aff" rid="A18">18</xref></contrib><contrib contrib-type="author"><name><surname>Manel</surname><given-names>Véronique</given-names></name><xref ref-type="aff" rid="A19">19</xref></contrib><contrib contrib-type="author"><name><surname>Mayer</surname><given-names>Michèle</given-names></name><xref ref-type="aff" rid="A20">20</xref></contrib><contrib contrib-type="author"><name><surname>Mercuri</surname><given-names>Eugenio</given-names></name><xref ref-type="aff" rid="A21">21</xref></contrib><contrib contrib-type="author"><name><surname>North</surname><given-names>Kathryn N.</given-names></name><xref ref-type="aff" rid="A22">22</xref></contrib><contrib contrib-type="author"><name><surname>Peudenier-Robert</surname><given-names>Sylviane</given-names></name><xref ref-type="aff" rid="A23">23</xref></contrib><contrib contrib-type="author"><name><surname>Pihko</surname><given-names>Helena</given-names></name><xref ref-type="aff" rid="A24">24</xref></contrib><contrib contrib-type="author"><name><surname>Probst</surname><given-names>Frank J.</given-names></name><xref ref-type="aff" rid="A25">25</xref></contrib><contrib contrib-type="author"><name><surname>Reisin</surname><given-names>Ricardo</given-names></name><xref ref-type="aff" rid="A26">26</xref></contrib><contrib contrib-type="author"><name><surname>Stewart</surname><given-names>Willie</given-names></name><xref ref-type="aff" rid="A27">27</xref></contrib><contrib contrib-type="author"><name><surname>Taratuto</surname><given-names>Ana Lia</given-names></name><xref ref-type="aff" rid="A28">28</xref></contrib><contrib contrib-type="author"><name><surname>de Visser</surname><given-names>Marianne</given-names></name><xref ref-type="aff" rid="A29">29</xref></contrib><contrib contrib-type="author"><name><surname>Wilichowski</surname><given-names>Ekkehard</given-names></name><xref ref-type="aff" rid="A30">30</xref></contrib><contrib contrib-type="author"><name><surname>Winer</surname><given-names>John</given-names></name><xref ref-type="aff" rid="A31">31</xref></contrib><contrib contrib-type="author"><name><surname>Nowak</surname><given-names>Kristen</given-names></name><xref ref-type="aff" rid="A32">32</xref></contrib><contrib contrib-type="author"><name><surname>Laing</surname><given-names>Nigel G.</given-names></name><xref ref-type="aff" rid="A32">32</xref></contrib><contrib contrib-type="author"><name><surname>Winder</surname><given-names>Tom L.</given-names></name><xref ref-type="aff" rid="A33">33</xref></contrib><contrib contrib-type="author"><name><surname>Monnier</surname><given-names>Nicole</given-names></name><xref ref-type="aff" rid="A34">34</xref></contrib><contrib contrib-type="author"><name><surname>Clarke</surname><given-names>Nigel F.</given-names></name><xref ref-type="aff" rid="A35">35</xref></contrib><contrib contrib-type="author"><name><surname>Pelin</surname><given-names>Katarina</given-names></name><xref ref-type="aff" rid="A36">36</xref></contrib><contrib contrib-type="author"><name><surname>Grönholm</surname><given-names>Mikaela</given-names></name><xref ref-type="aff" rid="A37">37</xref></contrib><contrib contrib-type="author"><name><surname>Wallgren-Pettersson</surname><given-names>Carina</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="corresp" rid="cor1">*</xref></contrib></contrib-group><aff id="A1"><label>1</label>The Folkhälsan Institute of Genetics and the Department of Medical Genetics, University of Helsinki, Haartman Institute, Biomedicum Helsinki, Finland</aff><aff id="A2"><label>2</label>National Heart and Lung Institute, Imperial College London, London, UK</aff><aff id="A3"><label>3</label>Institute of Biotechnology, University of Helsinki, Helsinki, Finland</aff><aff id="A4"><label>4</label>Cliniques des maladies du développement CHU Paris, Paris, France</aff><aff id="A5"><label>5</label>Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts</aff><aff id="A6"><label>6</label>Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesu’ Children’s Research Hospital, Rome, Italy</aff><aff id="A7"><label>7</label>Centre de reference de pathologie neuromusculaire, CHU Toulouse, Toulouse, France</aff><aff id="A8"><label>8</label>Service de Génétique, CHU Clémenceau, Caen, France</aff><aff id="A9"><label>9</label>Genetics, University Hospital La Miletrie, Poitiers, France</aff><aff id="A10"><label>10</label>The Department of Pediatrics, San Antonio Military Medical Center, Houston, Texas</aff><aff id="A11"><label>11</label>West of Scotland Regional Genetics Service, Glasgow, UK</aff><aff id="A12"><label>12</label>Centre de Référence de pathologie neuromusculaire Paris-Est, Groupe Hospitalier Pitié-Salpêtrière, Paris, France</aff><aff id="A13"><label>13</label>Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Aviv University, Tel Aviv, Israel</aff><aff id="A14"><label>14</label>Department of Neurology, Boston Children’s Hospital and Harvard Medical School, Boston, Massachusetts</aff><aff id="A15"><label>15</label>University Medical Centre Göttingen, Göttingen, Germany</aff><aff id="A16"><label>16</label>Glenrose Rehabilitation Hospital, University of Alberta, Alberta, Canada</aff><aff id="A17"><label>17</label>Institute of Genetic Medicine, Newcastle University, Tyne and Wear, UK</aff><aff id="A18"><label>18</label>National Referral Center for Rare Peripheral Neuropathies, Centre Hospitalier Universitaire, Limoges, France</aff><aff id="A19"><label>19</label>Centre de Référence des Maladies Neuromusculaires Rhône-Alpes, Hôpital Femme-Mère-Enfant, Lyon, France</aff><aff id="A20"><label>20</label>Centre de Référence et de Suivi des Maladies Neuromusculaires, Hôpital Trousseau, Paris, France</aff><aff id="A21"><label>21</label>Pediatric Neurology, Catholic University, Rome, Italy</aff><aff id="A22"><label>22</label>Murdoch Children’s Research Institute, Melbourne, Australia</aff><aff id="A23"><label>23</label>Pôle de la Femme, de la Mère et de l’Enfant, Centre Hospitalier Régional Universitaire Brest, Brest, France</aff><aff id="A24"><label>24</label>University of Helsinki Central Hospital, Helsinki, Finland</aff><aff id="A25"><label>25</label>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas</aff><aff id="A26"><label>26</label>Hospital Británico de Buenos Aires, Buenos Aires, Argentina</aff><aff id="A27"><label>27</label>Department of Pathology, Southern General Hospital, Glasgow, UK</aff><aff id="A28"><label>28</label>Department of Neuropathology, Institute for Neurological Research, FLENI, Buenos Aires, Argentina</aff><aff id="A29"><label>29</label>Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands</aff><aff id="A30"><label>30</label>Department of Pediatrics and Pediatric Neurology, Georg August University, Göttingen, Germany</aff><aff id="A31"><label>31</label>University Hospital Birmingham, Queen Elizabeth Hospital, Birmingham, UK</aff><aff id="A32"><label>32</label>Molecular Neurogenetics Laboratory, Centre for Medical Research, University of Western Australia, Nedlands, Australia</aff><aff id="A33"><label>33</label>PreventionGenetics, Marshfield, Massachusetts</aff><aff id="A34"><label>34</label>Laboratoire de Biochimie et Génétique Moléculaire, IBP-CHU Grenoble, Grenoble, France</aff><aff id="A35"><label>35</label>INMR, The Children’s Hospital at Westmead and Sydney Medical School, University of Sydney, Sydney, Australia</aff><aff id="A36"><label>36</label>Division of Genetics, Department of Biosciences, University of Helsinki, Helsinki, Finland</aff><aff id="A37"><label>37</label>Division of Biochemistry and Biotechnology, Department of Biosciences, University of Helsinki, Finland</aff><author-notes><corresp id="cor1"><label>*</label>Correspondence to: Carina Wallgren-Pettersson, The Folkhälsan Department of Medical Genetics, P.O. Box #211, Helsinki FIN-00251, Finland. <email>carina.wallgren@helsinki.fi</email></corresp></author-notes><pub-date pub-type="nihms-submitted"><day>7</day><month>10</month><year>2014</year></pub-date><pub-date pub-type="epub"><day>01</day><month>5</month><year>2014</year></pub-date><pub-date pub-type="ppub"><month>7</month><year>2014</year></pub-date><pub-date pub-type="pmc-release"><day>01</day><month>7</month><year>2015</year></pub-date><volume>35</volume><issue>7</issue><fpage>779</fpage><lpage>790</lpage><pmc-comment>elocation-id from pubmed: 10.1002/humu.22554</pmc-comment>
<permissions><copyright-statement>© 2014 Wiley Periodicals, Inc.</copyright-statement><copyright-year>2014</copyright-year></permissions><abstract><p id="P1">Mutations affecting skeletal muscle isoforms of the tropomyosin genes may cause nemaline myopathy, cap myopathy, core-rod myopathy, congenital fiber-type disproportion, distal arthrogryposes, and Escobar syndrome. We correlate the clinical picture of these diseases with novel (19) and previously reported (31) mutations of the <italic>TPM2</italic> and <italic>TPM3</italic> genes. Included are altogether 93 families: 53 with <italic>TPM2</italic> mutations and 40 with <italic>TPM3</italic> mutations. Thirty distinct pathogenic variants of <italic>TPM2</italic> and 20 of <italic>TPM3</italic> have been published or listed in the Leiden Open Variant Database (<ext-link ext-link-type="uri" xlink:href="http://www.dmd.nl/">http://www.dmd.nl/</ext-link>). Most are heterozygous changes associated with autosomal-dominant disease. Patients with <italic>TPM2</italic> mutations tended to present with milder symptoms than those with <italic>TPM3</italic> mutations, DA being present only in the <italic>TPM2</italic> group. Previous studies have shown that five of the mutations in <italic>TPM2</italic> and one in <italic>TPM3</italic> cause increased Ca<sup>2+</sup> sensitivity resulting in a hypercontractile molecular phenotype. Patients with hypercontractile phenotype more often had contractures of the limb joints (18/19) and jaw (6/19) than those with nonhypercontractile ones (2/22 and 1/22), whereas patients with the non-hypercontractile molecular phenotype more often (19/22) had axial contractures than the hypercontractile group (7/19). Our in silico predictions show that most mutations affect tropomyosin–actin association or tropomyosin head-to-tail binding.</p></abstract><kwd-group><kwd>congenital myopathy</kwd><kwd>genotype–phenotype correlation</kwd><kwd><italic>TPM2</italic></kwd><kwd><italic>TPM3</italic></kwd><kwd>actin</kwd><kwd>hypercontractile phenotype</kwd></kwd-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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