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Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype

✍ Scribed by Dunø, Morten; Colding-Jørgensen, Eskild; Grunnet, Morten; Jespersen, Thomas; Vissing, John; Schwartz, Marianne


Book ID
110025623
Publisher
Nature Publishing Group
Year
2004
Tongue
English
Weight
203 KB
Volume
12
Category
Article
ISSN
1018-4813

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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