{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,11]],"date-time":"2026-06-11T10:26:48Z","timestamp":1781173608320,"version":"3.54.1"},"reference-count":25,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,8,1]],"date-time":"2023-08-01T00:00:00Z","timestamp":1690848000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2023,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Limb girdle muscular dystrophies (LGMD) are a genetically heterogeneous group of muscular dystrophies. The study presents an overview of molecular characteristics of a large cohort of LGMD patients who are representative of the Czech LGMD population. We present 226 LGMD probands in which 433 mutant alleles carrying 157 different variants with a supposed pathogenic effect were identified. Fifty\u2010four variants have been described only in the Czech LGMD population so far. LGMD R1 caplain3\u2010related is the most frequent subtype of LGMD involving 53.1% of patients with genetically confirmed LGMD, followed by LGMD R9 FKRP\u2010related (11.1%), and LGMD R12 anoctamin5\u2010related (7.1%). If we consider identified variants, then all but five were small\u2010scale variants. One large gene deletion was identified in the\n                    <jats:italic>LAMA2<\/jats:italic>\n                    gene and two deletions in each of\n                    <jats:italic>CAPN3<\/jats:italic>\n                    and\n                    <jats:italic>SGCG<\/jats:italic>\n                    . We performed comparison our result with other published studies. The results obtained in the Czech LGMD population clearly differ from the outcome of other LGMD populations in two aspects\u2014we have a more significant proportion of patients with LGMD R1 calpain3\u2010related and a smaller proportion of LGMD R2 dysferlin\u2010related.\n                  <\/jats:p>","DOI":"10.1111\/cge.14407","type":"journal-article","created":{"date-parts":[[2023,8,1]],"date-time":"2023-08-01T09:07:29Z","timestamp":1690880849000},"page":"542-553","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Genetic findings in\n                    <scp>Czech<\/scp>\n                    patients with limb girdle muscular dystrophy"],"prefix":"10.1111","volume":"104","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 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