بررسی جهش در اگزون 8 ژن CLCN1 در بیماران ایرانی مبتلا به میوتونی غیر دیستروفیک

Background: Non-dystrophy myotonias (NDMs) have similar clinical signs of muscle weakness and congenital myotoniais typical example. This disease is caused by mutations in CLCN1 gene. CLCN1 gene has 23 exons and exon 8 is hotspot. Mutations in skeletal muscle chloride channel gene are associated with a group of clinically overlapping diseases by alterations in the excitability of the sarcolemma. The purpose of the study is to identify hotspot exon 8 mutations in Iranian non-dystrophic myotonic patients. Methods: In this study, twenty eight Iranian sporadic patients with non-dystrophic myotonia analyzed for the mutation scanning in exon 8 of CLCN1 gene by PCR-SSCP. DNA fragments showing abnormal banding patterns were sequenced for identification of exact mutations. Results: We found no mutation in exon 8 of CLCN1 genes. Conclusion: Our study indicates no mutation in the CLCN1 gene in Iranian non-dystrophic myotonia patients, but we suggest follow-up studies for finding the direct molecular relation of this gene with this disorder.