Article
Periodic paralysis, myotonia congenita and sarcolemmal ion channels: a success of the candidate gene approach.
Neuromuscular disorders : NMD - 1 Mar 1993
Fontaine B
Abstract excerpt
The classification of periodic paralyses and myotonic syndromes has been a subject of debates for the last 40 yr. Recent advances in molecular biology have led geneticists to reconsider this old question, using a candidate gene approach. Two groups of disorders have now emerged: (1) muscle sodium channel-associated diseases which include hyperkalemic periodic paralysis and its clinical variants, as well as...
Topics
- Genotype
- Humans
- Ion Channels
- Mutation
- Myotonia Congenita
- Paralyses, Familial Periodic
- Phenotype
- Sarcolemma
- Syndrome