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A missense mutation in canine ClC-1 causes recessive myotonia congenita in the dog

✍ Scribed by Thomas H. Rhodes; Charles H. Vite; Urs Giger; Donald F. Patterson; Christoph Fahlke; Alfred L. George Jr.


Book ID
117111195
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
118 KB
Volume
456
Category
Article
ISSN
0014-5793

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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