A Korean family with Arg1448Cys mutation of SCN4A channel causing paramyotonia congenita: electrophysiologic, histopathologic, and molecular genetic studies.

A family with paramyotonia congenita (PC) is presented. At least 10 family members were affected in an autosomal dominant inheritance pattern. The proband had cold-sensitive muscle stiffness, paradoxical myotonia, and intermittent muscle weakness since childhood. The serum level of creatine kinase w...

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Detalles Bibliográficos
Autores principales: Kim, Dae-Seong, Kim, Eun-Joo, Jung, Dae-Soo, Park, Kyu-Hyun, Kim, In-Joo, Kwak, Ki-Young, Kim, Cheol-Min, Ko, Hyun-Yoon
Formato: Texto
Lenguaje:English
Publicado: Korean Academy of Medical Sciences 2002
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3054970/
https://www.ncbi.nlm.nih.gov/pubmed/12483017

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