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A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel

Autosomal dominant myotonia congenita is an inherited disorder of skeletal muscle caused by mutations in a voltage-gated Cl(−) channel gene (CLCN1, 7q35). Here, we report that a mutation predicting the substitution of Gly 230 by glutamic acid (G230E) between segments D3 and D4 dramatically alters th...

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Detalhes bibliográficos
Main Authors: Fahlke, Christoph, Beck, Carol L., George, Alfred L.
Formato: Artigo
Idioma:Inglês
Publicado em: The National Academy of Sciences of the USA 1997
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC20158/
https://ncbi.nlm.nih.gov/pubmed/9122265
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