Evidence of genetic heterogeneity among the nondystrophic myotonias.

Abstract	Recent in vitro electrophysiologic studies have demonstrated abnormal sodium channel gating in muscle from patients with Thomsen's disease and have called the chloride hypothesis into question. Abnormal sodium channel function, like myotonia, is a feature common to Thomsen's disease and several myotonias that are genetically linked to a chromosome-17q sodium channel locus. We present a pedigree segregating an allele for Thomsen's disease that is unlinked to this sodium channel locus, thus constituting evidence of genetic heterogeneity among the nondystrophic myotonias.
Authors	L J Ptacek, F A Ziter, J W Roberts, M F Leppert
Journal	Neurology (Neurology) Vol. 42 Issue 5 Pg. 1046-8 (May 1992) ISSN: 0028-3878 [Print] United States
PMID	1315941 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)
Chemical References	Sodium Channels DNA
Topics	Child Child, Preschool Chromosome Mapping Chromosomes, Human, Pair 17 DNA (analysis) Female Genetic Linkage Humans Lod Score Male Myotonia Congenita (genetics) Pedigree Sodium Channels (genetics)

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