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41. Novel mutation in the CLCN1 gene causing myotonia congenita (Thomsen’s disease)

✍ Scribed by Kishore Kumar; Karl Ng; Himesha Vandebona; Nigel Laing; Carolyn Sue


Book ID
116675277
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
39 KB
Volume
16
Category
Article
ISSN
0967-5868

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## Myotonia congenita (MC) is a genetic disease characterized by mutations in the CLCN1 gene (OMIM\*118425) encoding the skeletal muscle voltage-gated chloride channel (ClC-1). Autosomal dominant and recessive forms are observed, characterized by impaired muscle relaxation after forceful contractio