{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T02:14:49Z","timestamp":1779934489595,"version":"3.53.1"},"reference-count":37,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2021,7,31]],"date-time":"2021-07-31T00:00:00Z","timestamp":1627689600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100007393","name":"Association Fran\u00e7aise contre les Myopathies","doi-asserted-by":"publisher","award":["19958"],"award-info":[{"award-number":["19958"]}],"id":[{"id":"10.13039\/100007393","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006005","name":"Agence de la Biom\u00e9decine","doi-asserted-by":"publisher","award":["ABD\/EBe-DLE"],"award-info":[{"award-number":["ABD\/EBe-DLE"]}],"id":[{"id":"10.13039\/501100006005","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Diagnosis of myopathies is challenged by the high genetic heterogeneity and clinical overlap of the various etiologies. We previously reported a Next-Generation Sequencing strategy to identify genetic etiology in patients with undiagnosed Limb-Girdle Muscular Dystrophies, Congenital Myopathies, Congenital Muscular Dystrophies, Distal Myopathies, Myofibrillar Myopathies, and hyperCKemia or effort intolerance, using a large gene panel including genes classically associated with other entry diagnostic categories. In this study, we report the comprehensive clinical-biological strategy used to interpret NGS data in a cohort of 156 pediatric and adult patients, that included Copy Number Variants search, variants filtering and interpretation according to ACMG guidelines, segregation studies, deep phenotyping of patients and relatives, transcripts and protein studies, and multidisciplinary meetings. Genetic etiology was identified in 74 patients, a diagnostic yield (47.4%) similar to previous studies. We identified 18 patients (10%) with causative variants in different genes (ACTA1, RYR1, NEB, TTN, TRIP4, CACNA1S, FLNC, TNNT1, and PAPBN1) that resulted in milder and\/or atypical phenotypes, with high intrafamilial variability in some cases. Mild phenotypes could mostly be explained by a less deleterious effect of variants on the protein. Detection of inter-individual variability and atypical phenotype-genotype associations is essential for precision medicine, patient care, and to progress in the understanding of the molecular mechanisms of myopathies.<\/jats:p>","DOI":"10.3390\/genes12081199","type":"journal-article","created":{"date-parts":[[2021,8,1]],"date-time":"2021-08-01T21:51:07Z","timestamp":1627854667000},"page":"1199","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families"],"prefix":"10.3390","volume":"12","author":[{"given":"Raul","family":"Juntas Morales","sequence":"first","affiliation":[{"name":"Explorations Neurologiques et Centre SLA, Centre de R\u00e9f\u00e9rence des Maladies Neuromusculaires AOC (Atlantique-Occitanie-Cara\u00efbe), Centre Hospitalier Universitaire de Montpellier, 34295 Montpellier, France"},{"name":"\u00c9quipe Accueil EA7402, Institut Universitaire de Recherche Clinique (IURC), Universit\u00e9 de Montpellier, 34093 Montpellier, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aur\u00e9lien","family":"Perrin","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France"},{"name":"PhyMedExp, Universit\u00e9 de Montpellier, INSERM, CNRS, 34093 Montpellier, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guilhem","family":"Sol\u00e9","sequence":"additional","affiliation":[{"name":"Service de Neurologie, Centre Hospitalier Universitaire de Bordeaux, Centre de r\u00e9f\u00e9rence des Maladies Neuromusculaires AOC (Atlantique-Occitanie-Cara\u00efbe), 33000 Bordeaux, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Delphine","family":"Lacourt","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henri","family":"Pegeot","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike","family":"Walther-Louvier","sequence":"additional","affiliation":[{"name":"Service de Neurop\u00e9diatrie, Centre Hospitalier Universitaire de Montpellier, Centre de r\u00e9f\u00e9rence des Maladies Neuromusculaires AOC (Atlantique-Occitanie-Cara\u00efbe), 34295 Montpellier, 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Toulouse, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edoardo","family":"Malfatti","sequence":"additional","affiliation":[{"name":"Service Neurologie M\u00e9dicale, Centre de R\u00e9f\u00e9rence Maladies Neuromusculaires Nord-Est-Ile-de-France, CHU Raymond-Poincar\u00e9, 92380 Garches, France"},{"name":"U1179 UVSQ-INSERM Handicap Neuromusculaire: Physiologie, Bioth\u00e9rapie et Pharmacologie Appliqu\u00e9es, UFR des Sciences de la Sant\u00e9 Simone Veil, Universit\u00e9 Versailles-Saint-Quentin-en-Yvelines, 78180 Versailles, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Biancalana","sequence":"additional","affiliation":[{"name":"Laboratoire de Diagnostic G\u00e9n\u00e9tique, Universit\u00e9 de Strasbourg, 67084 Strasbourg, France"},{"name":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), Inserm U1258, CNRS UMR7104, Universit\u00e9 de Strasbourg, 67404 Illkirch, 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France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5931-7454","authenticated-orcid":false,"given":"Mireille","family":"Coss\u00e9e","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France"},{"name":"PhyMedExp, Universit\u00e9 de Montpellier, INSERM, CNRS, 34093 Montpellier, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,7,31]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1152","DOI":"10.1016\/j.nmd.2017.10.005","article-title":"The 2018 version of the gene table of monogenic neuromuscular disorders (nuclear genome)","volume":"27","author":"Bonne","year":"2017","journal-title":"Neuromuscul. 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