Genotype-Phenotype Correlations in Human Skeletal Muscle Sodium Channel Diseases

doi:10.1001/archneur.1993.00540110113011

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Vol. 50 No. 11, November 1993

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Genotype-Phenotype Correlations in Human Skeletal Muscle Sodium Channel Diseases

Reinhardt Rüdel, PhD; Kenneth Ricker, MD; Frank Lehmann-Horn, MD

Arch Neurol. 1993;50(11):1241-1248.

Abstract

Background
Over the past 3 years, the genetics of the myotonic diseaseshave been substantially elaborated. Three genetically differentgroups of myotonic disease can be discerned: (1) the chloridechannel myotonias, (2) the adynamiaparamyotonia complex, and(3) myotonic dystrophy.

Methods and Results
Electrophysiology has suggested and molecular biology has proventhat the diseases belonging to the adynamia-paramyotonia complex,ie, paramyotonia congenita, hyperkalemic and normokalemic periodicparalysis, and some rare forms of myotonic disease, are causedby point mutations in the gene encoding the ${alpha}$ subunit of thesodium channel in adult human skeletal muscle, located on chromosome17q23. Thirteen different mutations have been described by variousgroups in the United States and Germany. The various mutationscausing a particular form of the complex are not located inthe gene in a predictable or easily understandable regular manner.

Conclusions
Further study of the genotype-phenotype correlations shouldnot only increase our understanding of the variability of signsin this group of diseases, it could also provide us with a deeperinsight in the function of the various regions of the sodiumchannel protein.

Author Affiliations

From the Department of Physiology, University of Ulm (Germany).

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