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Mexiletine block of disease-associated mutations in S6 segments of the human skeletal muscle Na+ channel

✍ Scribed by Masanori P. Takahashi; Stephen C. Cannon


Book ID
111119592
Publisher
Cambridge University Press
Year
2001
Tongue
English
Weight
403 KB
Volume
537
Category
Article
ISSN
0022-3751

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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