Links to Exploration step
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies</title><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, Haartman Institute, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Kiiski, Kirsi" sort="Kiiski, Kirsi" uniqKey="Kiiski K" first="Kirsi" last="Kiiski">Kirsi Kiiski</name><affiliation><nlm:aff id="A1">The Folkhälsan Institute of Genetics and the Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Sandaradura, Sarah A" sort="Sandaradura, Sarah A" uniqKey="Sandaradura S" first="Sarah A." last="Sandaradura">Sarah A. Sandaradura</name><affiliation><nlm:aff id="A2">INMR, The Children’s Hospital at Westmead and Sydney Medical School, University of Sydney, Sydney, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Sydney, Australia</nlm:aff></affiliation></author><author><name sortKey="Laporte, Jocelyn" sort="Laporte, Jocelyn" uniqKey="Laporte J" first="Jocelyn" last="Laporte">Jocelyn Laporte</name><affiliation><nlm:aff id="A4">Department of Translational Medicine, IGBMC, Inserm U964, CNRS UMR7104, Collège de France, Strasbourg University, Illkirch, France</nlm:aff></affiliation></author><author><name sortKey="Repo, Pauliina" sort="Repo, Pauliina" uniqKey="Repo P" first="Pauliina" last="Repo">Pauliina Repo</name><affiliation><nlm:aff id="A1">The Folkhälsan Institute of Genetics and the Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Frey, Jennifer A" sort="Frey, Jennifer A" uniqKey="Frey J" first="Jennifer A." last="Frey">Jennifer A. Frey</name><affiliation><nlm:aff id="A5">Prevention Genetics Marshfield, Marshfield, Wisconsin</nlm:aff></affiliation></author><author><name sortKey="Donner, Kati" sort="Donner, Kati" uniqKey="Donner K" first="Kati" last="Donner">Kati Donner</name><affiliation><nlm:aff id="A6">Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland</nlm:aff></affiliation></author><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, Haartman Institute, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Saunders, Carol" sort="Saunders, Carol" uniqKey="Saunders C" first="Carol" last="Saunders">Carol Saunders</name><affiliation><nlm:aff id="A7">Center for Pediatric Genomic Medicine Children’s Mercy Hospitals and Clinics, Kansas City, Missouri</nlm:aff></affiliation></author><author><name sortKey="Barth, Peter G" sort="Barth, Peter G" uniqKey="Barth P" first="Peter G." last="Barth">Peter G. Barth</name><affiliation><nlm:aff id="A8">Department of Pediatric Neurology, Emma Children’s Hospital/AMC, University of Amsterdam, Amsterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Den Dunnen, Johan T" sort="Den Dunnen, Johan T" uniqKey="Den Dunnen J" first="Johan T." last="Den Dunnen">Johan T. Den Dunnen</name><affiliation><nlm:aff id="A9">Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands</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="A10">Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts</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="A2">INMR, The Children’s Hospital at Westmead and Sydney Medical School, University of Sydney, Sydney, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Sydney, 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="A11">Murdoch Childrens Research, Melbourne, 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="A12">Centre for Medical Research University of Western Australia and Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Perth, Australia</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="A13">Myology Institute, UPMC Paris-6, INSERM UMR 974, GHU La Pitié-Salpêtrière, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Winder, Thomas L" sort="Winder, Thomas L" uniqKey="Winder T" first="Thomas L." last="Winder">Thomas L. Winder</name><affiliation><nlm:aff id="A5">Prevention Genetics Marshfield, Marshfield, Wisconsin</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="A14">Department of Biosciences, Division of Genetics, University of Helsinki, 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, Haartman Institute, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">25205138</idno><idno type="pmc">4295925</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4295925</idno><idno type="RBID">PMC:4295925</idno><idno type="doi">10.1002/humu.22693</idno><date when="2014">2014</date><idno type="wicri:Area/Pmc/Corpus">002120</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002120</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies</title><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, Haartman Institute, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Kiiski, Kirsi" sort="Kiiski, Kirsi" uniqKey="Kiiski K" first="Kirsi" last="Kiiski">Kirsi Kiiski</name><affiliation><nlm:aff id="A1">The Folkhälsan Institute of Genetics and the Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Sandaradura, Sarah A" sort="Sandaradura, Sarah A" uniqKey="Sandaradura S" first="Sarah A." last="Sandaradura">Sarah A. Sandaradura</name><affiliation><nlm:aff id="A2">INMR, The Children’s Hospital at Westmead and Sydney Medical School, University of Sydney, Sydney, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Sydney, Australia</nlm:aff></affiliation></author><author><name sortKey="Laporte, Jocelyn" sort="Laporte, Jocelyn" uniqKey="Laporte J" first="Jocelyn" last="Laporte">Jocelyn Laporte</name><affiliation><nlm:aff id="A4">Department of Translational Medicine, IGBMC, Inserm U964, CNRS UMR7104, Collège de France, Strasbourg University, Illkirch, France</nlm:aff></affiliation></author><author><name sortKey="Repo, Pauliina" sort="Repo, Pauliina" uniqKey="Repo P" first="Pauliina" last="Repo">Pauliina Repo</name><affiliation><nlm:aff id="A1">The Folkhälsan Institute of Genetics and the Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Frey, Jennifer A" sort="Frey, Jennifer A" uniqKey="Frey J" first="Jennifer A." last="Frey">Jennifer A. Frey</name><affiliation><nlm:aff id="A5">Prevention Genetics Marshfield, Marshfield, Wisconsin</nlm:aff></affiliation></author><author><name sortKey="Donner, Kati" sort="Donner, Kati" uniqKey="Donner K" first="Kati" last="Donner">Kati Donner</name><affiliation><nlm:aff id="A6">Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland</nlm:aff></affiliation></author><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, Haartman Institute, University of Helsinki, Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Saunders, Carol" sort="Saunders, Carol" uniqKey="Saunders C" first="Carol" last="Saunders">Carol Saunders</name><affiliation><nlm:aff id="A7">Center for Pediatric Genomic Medicine Children’s Mercy Hospitals and Clinics, Kansas City, Missouri</nlm:aff></affiliation></author><author><name sortKey="Barth, Peter G" sort="Barth, Peter G" uniqKey="Barth P" first="Peter G." last="Barth">Peter G. Barth</name><affiliation><nlm:aff id="A8">Department of Pediatric Neurology, Emma Children’s Hospital/AMC, University of Amsterdam, Amsterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Den Dunnen, Johan T" sort="Den Dunnen, Johan T" uniqKey="Den Dunnen J" first="Johan T." last="Den Dunnen">Johan T. Den Dunnen</name><affiliation><nlm:aff id="A9">Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands</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="A10">Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts</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="A2">INMR, The Children’s Hospital at Westmead and Sydney Medical School, University of Sydney, Sydney, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Sydney, 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="A11">Murdoch Childrens Research, Melbourne, 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="A12">Centre for Medical Research University of Western Australia and Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Perth, Australia</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="A13">Myology Institute, UPMC Paris-6, INSERM UMR 974, GHU La Pitié-Salpêtrière, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Winder, Thomas L" sort="Winder, Thomas L" uniqKey="Winder T" first="Thomas L." last="Winder">Thomas L. Winder</name><affiliation><nlm:aff id="A5">Prevention Genetics Marshfield, Marshfield, Wisconsin</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="A14">Department of Biosciences, Division of Genetics, University of Helsinki, 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, Haartman Institute, University of Helsinki, 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">A mutation update on the nebulin gene (<italic>NEB</italic>) is necessary because of recent developments in analysis methodology, the identification of increasing numbers and novel types of variants, and a widening in the spectrum of clinical and histological phenotypes associated with this gigantic, 183 exons containing gene. Recessive pathogenic variants in <italic>NEB</italic> are the major cause of nemaline myopathy (NM), one of the most common congenital myopathies. Moreover, pathogenic <italic>NEB</italic> variants have been identified in core-rod myopathy and in distal myopathies. In this update, we present the disease-causing variants in <italic>NEB</italic> in 159 families, 143 families with NM, and 16 families with NM-related myopathies. Eighty-eight families are presented here for the first time. We summarize 86 previously published and 126 unpublished variants identified in <italic>NEB</italic>. Furthermore, we have analyzed the <italic>NEB</italic> variants deposited in the Exome Variant Server (<ext-link ext-link-type="uri" xlink:href="http://evs.gs.washington.edu/EVS/">http://evs.gs.washington.edu/EVS/</ext-link>), identifying that pathogenic variants are a minor fraction of all coding variants (~7%). This indicates that nebulin tolerates substantial changes in its amino acid sequence, providing an explanation as to why variants in such a large gene result in relatively rare disorders. Lastly, we discuss the difficulties of drawing reliable genotype–phenotype correlations in <italic>NEB</italic>-associated disease.</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">25205138</article-id><article-id pub-id-type="pmc">4295925</article-id><article-id pub-id-type="doi">10.1002/humu.22693</article-id><article-id pub-id-type="manuscript">NIHMS654396</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Lehtokari</surname><given-names>Vilma-Lotta</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="corresp" rid="CR1">*</xref></contrib><contrib contrib-type="author"><name><surname>Kiiski</surname><given-names>Kirsi</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Sandaradura</surname><given-names>Sarah A.</given-names></name><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Laporte</surname><given-names>Jocelyn</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Repo</surname><given-names>Pauliina</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Frey</surname><given-names>Jennifer A.</given-names></name><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Donner</surname><given-names>Kati</given-names></name><xref ref-type="aff" rid="A6">6</xref></contrib><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>Saunders</surname><given-names>Carol</given-names></name><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Barth</surname><given-names>Peter G.</given-names></name><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author"><name><surname>den Dunnen</surname><given-names>Johan T.</given-names></name><xref ref-type="aff" rid="A9">9</xref></contrib><contrib contrib-type="author"><name><surname>Beggs</surname><given-names>Alan H.</given-names></name><xref ref-type="aff" rid="A10">10</xref></contrib><contrib contrib-type="author"><name><surname>Clarke</surname><given-names>Nigel F.</given-names></name><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>North</surname><given-names>Kathryn N.</given-names></name><xref ref-type="aff" rid="A11">11</xref></contrib><contrib contrib-type="author"><name><surname>Laing</surname><given-names>Nigel G.</given-names></name><xref ref-type="aff" rid="A12">12</xref></contrib><contrib contrib-type="author"><name><surname>Romero</surname><given-names>Norma B.</given-names></name><xref ref-type="aff" rid="A13">13</xref></contrib><contrib contrib-type="author"><name><surname>Winder</surname><given-names>Thomas L.</given-names></name><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Pelin</surname><given-names>Katarina</given-names></name><xref ref-type="aff" rid="A14">14</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></contrib></contrib-group><aff id="A1"><label>1</label>The Folkhälsan Institute of Genetics and the Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland</aff><aff id="A2"><label>2</label>INMR, The Children’s Hospital at Westmead and Sydney Medical School, University of Sydney, Sydney, Australia</aff><aff id="A3"><label>3</label>Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Sydney, Australia</aff><aff id="A4"><label>4</label>Department of Translational Medicine, IGBMC, Inserm U964, CNRS UMR7104, Collège de France, Strasbourg University, Illkirch, France</aff><aff id="A5"><label>5</label>Prevention Genetics Marshfield, Marshfield, Wisconsin</aff><aff id="A6"><label>6</label>Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland</aff><aff id="A7"><label>7</label>Center for Pediatric Genomic Medicine Children’s Mercy Hospitals and Clinics, Kansas City, Missouri</aff><aff id="A8"><label>8</label>Department of Pediatric Neurology, Emma Children’s Hospital/AMC, University of Amsterdam, Amsterdam, The Netherlands</aff><aff id="A9"><label>9</label>Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands</aff><aff id="A10"><label>10</label>Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts</aff><aff id="A11"><label>11</label>Murdoch Childrens Research, Melbourne, Australia</aff><aff id="A12"><label>12</label>Centre for Medical Research University of Western Australia and Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Perth, Australia</aff><aff id="A13"><label>13</label>Myology Institute, UPMC Paris-6, INSERM UMR 974, GHU La Pitié-Salpêtrière, Paris, France</aff><aff id="A14"><label>14</label>Department of Biosciences, Division of Genetics, University of Helsinki, Helsinki, Finland</aff><author-notes><corresp id="CR1"><label>*</label> Correspondence to: Vilma-Lotta Lehtokari, The Folkhälsan Institute of Genetics and the Department of Medical Genetics, Haartman Institute, University of Helsinki, Biomedicum Helsinki, PO Box #63 (Haartmaninkatu 8), University of Helsinki, Helsinki 00014, Finland. <email>vilma.lehtokari@helsinki.fi</email>.</corresp></author-notes><pub-date pub-type="nihms-submitted"><day>10</day><month>1</month><year>2015</year></pub-date><pub-date pub-type="ppub"><month>12</month><year>2014</year></pub-date><pub-date pub-type="pmc-release"><day>01</day><month>12</month><year>2015</year></pub-date><volume>35</volume><issue>12</issue><fpage>1418</fpage><lpage>1426</lpage><pmc-comment>elocation-id from pubmed: 10.1002/humu.22693</pmc-comment>
<permissions><copyright-statement>© 2014 WILEY PERIODICALS, INC.</copyright-statement><copyright-year>2014</copyright-year></permissions><abstract><p id="P1">A mutation update on the nebulin gene (<italic>NEB</italic>) is necessary because of recent developments in analysis methodology, the identification of increasing numbers and novel types of variants, and a widening in the spectrum of clinical and histological phenotypes associated with this gigantic, 183 exons containing gene. Recessive pathogenic variants in <italic>NEB</italic> are the major cause of nemaline myopathy (NM), one of the most common congenital myopathies. Moreover, pathogenic <italic>NEB</italic> variants have been identified in core-rod myopathy and in distal myopathies. In this update, we present the disease-causing variants in <italic>NEB</italic> in 159 families, 143 families with NM, and 16 families with NM-related myopathies. Eighty-eight families are presented here for the first time. We summarize 86 previously published and 126 unpublished variants identified in <italic>NEB</italic>. Furthermore, we have analyzed the <italic>NEB</italic> variants deposited in the Exome Variant Server (<ext-link ext-link-type="uri" xlink:href="http://evs.gs.washington.edu/EVS/">http://evs.gs.washington.edu/EVS/</ext-link>), identifying that pathogenic variants are a minor fraction of all coding variants (~7%). This indicates that nebulin tolerates substantial changes in its amino acid sequence, providing an explanation as to why variants in such a large gene result in relatively rare disorders. Lastly, we discuss the difficulties of drawing reliable genotype–phenotype correlations in <italic>NEB</italic>-associated disease.</p></abstract><kwd-group><kwd>nebulin</kwd><kwd><italic>NEB</italic></kwd><kwd>nemaline (rod) myopathy</kwd><kwd>actin–myosin</kwd><kwd>sarcomere</kwd></kwd-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/Pmc/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002120 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Pmc/Corpus/biblio.hfd -nk 002120 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Asie
|area= AustralieFrV1
|flux= Pmc
|étape= Corpus
|type= RBID
|clé=
|texte=
}}
| This area was generated with Dilib version V0.6.33. |  |