{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T02:20:48Z","timestamp":1784082048700,"version":"3.55.0"},"reference-count":16,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2025,6,17]],"date-time":"2025-06-17T00:00:00Z","timestamp":1750118400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,6,17]],"date-time":"2025-06-17T00:00:00Z","timestamp":1750118400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100009553","name":"Agentura Pro Zdravotnick\u00fd V\u00fdzkum \u010cesk\u00e9 Republiky","doi-asserted-by":"publisher","award":["NU21\u201006\u2010 00363"],"award-info":[{"award-number":["NU21\u201006\u2010 00363"]}],"id":[{"id":"10.13039\/501100009553","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Congenital myopathies (CMs) are a heterogeneous group of genetic muscle disorders characterized by hypotonia and muscle weakness, with pathogenic variants identified in at least 41 genes and inheritance patterns including autosomal dominant (AD), recessive (AR), and X\u2010linked (XL). We present 79 unrelated patients with genetically confirmed CM using next\u2010generation sequencing (NGS). A total of 113 mutant alleles carrying 97 different variants with a presumed pathogenic effect were identified. According to the HGMD database, 54 of these variants have been reported exclusively in the Czech CM population to date. All but five variants were small\u2010scale. Large gene deletions were identified in the\n                    <jats:italic>MTM1<\/jats:italic>\n                    ,\n                    <jats:italic>NEB<\/jats:italic>\n                    , and\n                    <jats:italic>RYR1<\/jats:italic>\n                    genes. Sequencing of breakpoint junctions in the identified\n                    <jats:italic>NEB<\/jats:italic>\n                    and\n                    <jats:italic>RYR1<\/jats:italic>\n                    deletions provided insights into the upstream mechanisms leading to genomic instability and resulting in structural variations. We present the family with dominant inheritance of the\n                    <jats:italic>NEB<\/jats:italic>\n                    deletion of exons 19\u201378. We assume that our family represents another reported case of a dominant mutation in the\n                    <jats:italic>NEB<\/jats:italic>\n                    gene. Our results contribute to further knowledge in the field of neuromuscular diseases and mutational mechanisms.\n                  <\/jats:p>","DOI":"10.1111\/cge.14782","type":"journal-article","created":{"date-parts":[[2025,6,29]],"date-time":"2025-06-29T10:46:34Z","timestamp":1751193994000},"page":"678-683","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Genetic and Structural Variations in Czech Patients With Congenital Myopathies"],"prefix":"10.1111","volume":"108","author":[{"given":"Jana","family":"Z\u00eddkov\u00e1","sequence":"first","affiliation":[{"name":"Centre of Molecular Biology and Genetics University Hospital Brno and Masaryk University  Brno Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbora","family":"Lauerov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology 2nd Faculty of Medicine, Charles University and Motol University Hospital  Praha Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L\u00edvie","family":"Mensov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Neurology 2nd Faculty of Medicine, Charles University and Motol University Hospital  Praha Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tereza","family":"Kram\u00e1\u0159ov\u00e1","sequence":"additional","affiliation":[{"name":"Centre of Molecular Biology and Genetics University Hospital Brno and Masaryk University  Brno Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johana","family":"Kop\u010dilov\u00e1","sequence":"additional","affiliation":[{"name":"Centre of Molecular Biology and Genetics University Hospital Brno and Masaryk University  Brno Czech Republic"},{"name":"Laboratory of Functional Genomics and Proteomics National Centre for Biomolecular Research, Faculty of Science, Masaryk University  Brno Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kamila","family":"R\u00e9blov\u00e1","sequence":"additional","affiliation":[{"name":"Centre of Molecular Biology and Genetics University Hospital Brno and Masaryk University  Brno Czech Republic"},{"name":"Central European Institute of Technology Masaryk University  Brno Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magdal\u00e9na","family":"Soukup Vodi\u010dkov\u00e1","sequence":"additional","affiliation":[{"name":"Centre of Molecular Biology and Genetics University Hospital Brno and Masaryk University  Brno Czech Republic"},{"name":"Laboratory of Functional Genomics and Proteomics National Centre for Biomolecular Research, Faculty of Science, Masaryk University  Brno Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina","family":"Huj\u0148\u00e1kov\u00e1","sequence":"additional","affiliation":[{"name":"Centre of Molecular Biology and Genetics University Hospital Brno and Masaryk University  Brno Czech Republic"},{"name":"Laboratory of Functional Genomics and Proteomics National Centre for Biomolecular Research, Faculty of Science, Masaryk University  Brno Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jana","family":"Haberlov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology 2nd Faculty of Medicine, Charles University and Motol University Hospital  Praha Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Rohlenov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology 2nd Faculty of Medicine, Charles University and Motol University Hospital  Praha Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Radim","family":"Mazanec","sequence":"additional","affiliation":[{"name":"Department of Neurology 2nd Faculty of Medicine, Charles University and Motol University Hospital  Praha Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jana","family":"\u0160oukalov\u00e1","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Genomics University Hospital Brno and Masaryk University  Brno Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renata","family":"Gaillyov\u00e1","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Genomics University Hospital Brno and Masaryk University  Brno Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Em\u00edlie","family":"Vyhn\u00e1lkov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Biology and Medical Genetics 2nd Faculty of Medicine, Charles University and Motol University Hospital  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miroslava","family":"Bala\u0161\u010dakov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Biology and Medical Genetics 2nd Faculty of Medicine, Charles University and Motol University Hospital  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pavl\u00edna","family":"Danhofer","sequence":"additional","affiliation":[{"name":"Department of Child Neurology University Hospital Brno and Masaryk University  Brno Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lenka","family":"Ju\u0159\u00edkov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Child Neurology University Hospital Brno and Masaryk University  Brno Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dagmar","family":"Gre\u010dmalov\u00e1","sequence":"additional","affiliation":[{"name":"Institute of Clinical and Molecular 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University Hospital  Praha Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tom\u00e1\u0161","family":"Honz\u00edk","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Inherited Metabolic Disorders First Faculty of Medicine, Charles University and General University Hospital in Prague  Praha Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Magner","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Inherited Metabolic Disorders First Faculty of Medicine, Charles University and General University Hospital in Prague  Praha Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina","family":"Klincov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Pediatric Anesthesiology and Intensive Care Medicine University Hospital Brno and Masaryk University  Brno Czech 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