Genotype-phenotype correlations in human skeletal muscle sodium channel diseases.


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… (More)


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