{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:02:12Z","timestamp":1753869732556,"version":"3.41.2"},"reference-count":59,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2022,11,14]],"date-time":"2022-11-14T00:00:00Z","timestamp":1668384000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003970","name":"Isfahan University of Medical Sciences","doi-asserted-by":"publisher","award":["51079"],"award-info":[{"award-number":["51079"]}],"id":[{"id":"10.13039\/501100003970","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2023,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Limb\u2010girdle muscular dystrophy (LGMD) is a non\u2010syndromic muscular dystrophy caused by variations in the genes involved in muscle structure, function and repair. The heterogeneity in the severity, progression, age of onset, and causative genes makes next\u2010generation sequencing (NGS) a necessary approach for the proper diagnosis of LGMD.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In this article, 26 Iranian patients with LGMD criteria were diagnosed with disease variants in the genes encoding calpain3, dysferlin, sarcoglycans and Laminin \u03b1\u20102. Patients were referred to the hospital with variable distribution of muscle wasting and progressive weakness in the body. The symptoms along with biochemical and EMG tests were suggestive of LGMD; thus the genomic DNA of patients were investigated by whole\u2010exome sequencing including flanking intronic regions. The target genes were explored for the disease\u2010causing variants. Moreover, the consequence of the amino acid alterations on proteins' secondary structure and function was investigated for a better understanding of the pathogenicity of variants. Variants were sorted based on the genomic region, type and clinical significance.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In a comprehensive investigation of previous clinical records, 6 variations were determined as novel, including c.1354\u20132 A\u2009&gt;\u2009T and c.3169_3172dupCGGC in <jats:italic>DYSF<\/jats:italic>, c.568\u2009G\u2009&gt;\u2009T in <jats:italic>SGCD<\/jats:italic>, c.7243 C\u2009&gt;\u2009T, c.8662_8663 insT and c. 4397G\u2009&gt;\u2009C in <jats:italic>LAMA2<\/jats:italic>. Some of the detected variants were located in functional domains and\/or near to the post\u2010translational modification sites, altering or removing highly conserved regions of amino acid sequence.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2101","type":"journal-article","created":{"date-parts":[[2022,11,14]],"date-time":"2022-11-14T14:30:23Z","timestamp":1668436223000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Causative variants linked with limb girdle muscular dystrophy in an Iranian population: 6 novel variants"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4737-2472","authenticated-orcid":false,"given":"Hamidreza","family":"Mianesaz","sequence":"first","affiliation":[{"name":"Department of Human Genetics, Medical School University of Debrecen  Debrecen Hungary"},{"name":"Department of Genetics and Molecular Biology Isfahan University of Medical Sciences  Isfahan 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Research Committee Semnan University of Medical Science  Semnan Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Majid","family":"Hosseinzadeh","sequence":"additional","affiliation":[{"name":"Department of Genetics and Molecular Biology Isfahan University of Medical Sciences  Isfahan Iran"},{"name":"Medical Genetics Laboratory, Alzahra University Hospital Isfahan University of Medical Sciences  Isfahan Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keivan","family":"Basiri","sequence":"additional","affiliation":[{"name":"Metabolic Disorders Research Center, Endocrinology and Metabolism Molecular\u2010Cellular Sciences Institute Tehran University of Medical Science  Tehran Iran"},{"name":"Department of Neurology Isfahan University of Medical Sciences  Isfahan Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Majid","family":"Ghasemi","sequence":"additional","affiliation":[{"name":"Metabolic Disorders Research Center, Endocrinology and Metabolism Molecular\u2010Cellular Sciences Institute Tehran University of Medical Science  Tehran Iran"},{"name":"Department of Neurology Isfahan University of Medical Sciences  Isfahan Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maryam","family":"Sedghi","sequence":"additional","affiliation":[{"name":"Medical Genetics Laboratory, Alzahra University Hospital Isfahan University of Medical Sciences  Isfahan Iran"},{"name":"Metabolic Disorders Research Center, Endocrinology and Metabolism Molecular\u2010Cellular Sciences Institute Tehran University of Medical Science  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Behnaz","family":"Ansari","sequence":"additional","affiliation":[{"name":"Department of Neurology Isfahan University of Medical Sciences  Isfahan Iran"},{"name":"Isfahan Neuroscience Research Center, ALzahra Research Institute Isfahan University of Medical Science  Isfahan 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