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- Title
A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg.
- Authors
Sasaki, R; Takano, H; Kamakura, K; Kaida, K; Hirata, A; Saito, M; Tanaka, H; Kuzuhara, S; Tsuji, S
- Abstract
Paramyotonia congenita (PMC) of von Eulenburg is an autosomal dominant muscular disease characterized by exercise- and cold-induced myotonia and weakness. To date, 18 missense mutations in the adult skeletal muscle sodium channel alpha-subunit (SCN4A) gene have been identified to cause a spectrum of muscular diseases, including PMC of von Eulenburg, PMC without cold paralysis, potassium-aggravating myotonia, and hyperkalemic periodic paralysis. However, no obvious correlations can be made between the location or nature of amino acid substitutions in SCN4A and its clinical phenotypes.
- Publication
Archives of neurology, 1999, Vol 56, Issue 6, p692
- ISSN
0003-9942
- Publication type
Journal Article
- DOI
10.1001/archneur.56.6.692