Hyperkalemic Periodic Paralysis and the Adult Muscle Sodium Channel α-Subuit Gene
Abstract
Hyperkalemic periodic paralysis (HYPP) is an autosomal dominant disorder characterized by episodes of muscle weakness due to depolarization of the muscle cell membrane associated with elevated serum potassium. Electrophysiological studies have implicated the adult muscle sodium channel. Here, portions of the adult muscle sodium channel α-subunit gene were cloned and mapped near the human growth hormone locus (GH1) on chromosome 17. In a large pedigree displaying HYPP with myotonia, these two loci showed tight linkage to the genetic defect with no recombinants detected. Thus, it is likely that the sodium channel α-subunit gene contains the HYPP mutation.
- Publication:
-
Science
- Pub Date:
- November 1990
- DOI:
- 10.1126/science.2173143
- Bibcode:
- 1990Sci...250.1000F