Article
Genotype-phenotype correlations in human skeletal muscle sodium channel diseases.
Archives of neurology - 1 Nov 1993
Rüdel R, Ricker K, Lehmann-Horn F
Abstract excerpt
BACKGROUND: Over the past 3 years, the genetics of the myotonic diseases have been substantially elaborated. Three genetically different groups of myotonic disease can be discerned: (1) the chloride channel myotonias, (2) the adynamia-paramyotonia complex, and (3) myotonic dystrophy. METHODS AND RESULTS: Electrophysiology has suggested and molecular biology has proven that the diseases belonging to the...
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