{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T03:09:21Z","timestamp":1780456161763,"version":"3.54.1"},"reference-count":8,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2016,9,26]],"date-time":"2016-09-26T00:00:00Z","timestamp":1474848000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003243","name":"Ministerstvo Zdravotnictv\u00ed Cesk\u00e9 Republiky","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003243","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,3]]},"abstract":"<jats:p>Inherited neuromuscular disorder (<jats:styled-content style=\"fixed-case\">NMD<\/jats:styled-content>) is a wide term covering different genetic disorders affecting muscles, nerves, and neuromuscular junctions. Genetic and clinical heterogeneity is the main drawback in a routine gene\u2010by\u2010gene diagnostics. We present Czech <jats:styled-content style=\"fixed-case\">NMD<\/jats:styled-content> patients with a genetic cause identified using targeted next\u2010generation sequencing (<jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content>) and the spectrum of these causes. Overall 167 unrelated patients presenting <jats:styled-content style=\"fixed-case\">NMD<\/jats:styled-content> falling into categories of muscular dystrophies, congenital muscular dystrophies, congenital myopathies, distal myopathies, and other myopathies were tested by targeted <jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content> of 42 known <jats:styled-content style=\"fixed-case\">NMD<\/jats:styled-content>\u2010related genes. Pathogenic or probably pathogenic sequence changes were identified in 79 patients (47.3%). In total, 37 novel and 51 known disease\u2010causing variants were detected in 23 genes. In addition, variants of uncertain significance were suspected in 7 cases (4.2%), and in 81 cases (48.5%) sequence changes associated with <jats:styled-content style=\"fixed-case\">NMD<\/jats:styled-content> were not found. Our results strongly indicate that for molecular diagnostics of heterogeneous disorders such as <jats:styled-content style=\"fixed-case\">NMDs<\/jats:styled-content>, targeted panel testing has a high\u2010clinical yield and should therefore be the preferred first\u2010tier approach. Further, we show that in the genetic diagnostic practice of <jats:styled-content style=\"fixed-case\">NMDs<\/jats:styled-content>, it is necessary to take into account different types of inheritance including the occurrence of an autosomal recessive disorder in two generations of one family.<\/jats:p>","DOI":"10.1111\/cge.12839","type":"journal-article","created":{"date-parts":[[2016,7,22]],"date-time":"2016-07-22T13:42:41Z","timestamp":1469194961000},"page":"463-469","source":"Crossref","is-referenced-by-count":29,"title":["Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic"],"prefix":"10.1111","volume":"91","author":[{"given":"K.","family":"Stehl\u00edkov\u00e1","sequence":"first","affiliation":[{"name":"Centre of Molecular Biology and Gene Therapy University Hospital Brno and Masaryk University  Brno Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Sk\u00e1lov\u00e1","sequence":"additional","affiliation":[{"name":"Centre of Molecular Biology and Gene Therapy University Hospital Brno and Masaryk University  Brno Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Z\u00eddkov\u00e1","sequence":"additional","affiliation":[{"name":"Centre of Molecular Biology and Gene Therapy University Hospital Brno and Masaryk University  Brno Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Haberlov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Child Neurology, Second Faculty of Medicine Charles University and University Hospital Motol  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Voh\u00e1\u0148ka","sequence":"additional","affiliation":[{"name":"Department of Neurology University Hospital Brno  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