Article
Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel.
Nature genetics - 1 Oct 1992
McClatchey A I, McKenna-Yasek D, Cros D, Worthen H G, Kuncl R W, DeSilva S M, Cornblath D R, Gusella J F, Brown R H
Abstract excerpt
Mutations in the skeletal muscle sodium channel gene (SCN4A) have been described in paramyotonia congenita (PMC) and hyperkalaemic periodic paralysis (HPP). We have found two mutations in SCN4A which affect regions of the sodium channel not previously associated with a disease phenotype. Furthermore, affected family members display an unusual mixture of clinical features reminiscent of PMC, HPP and of a third...
Topics
- Adult
- Base Sequence
- DNA
- DNA Mutational Analysis
- Female
- Humans
- Male
- Molecular Sequence Data
- Muscular Diseases
- Myotonia Congenita
- Paralyses, Familial Periodic