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

doi:10.1001/archneur.1993.00540110113011

Back to search

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...

Topics

Electrophysiology
Genotype
Humans
Hypokalemia
Muscles
Mutation
Myotonia
Myotonia Congenita
Myotonic Dystrophy
Paralyses, Familial Periodic
Phenotype
Sodium Channels

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.