Ontology highlight
ABSTRACT:
SUBMITTER: Ptacek LJ
PROVIDER: S-EPMC1683285 | biostudies-other | 1991 Aug
REPOSITORIES: biostudies-other
Ptacek L J LJ Tyler F F Trimmer J S JS Agnew W S WS Leppert M M
American journal of human genetics 19910801 2
Hyperkalemic periodic paralysis (HYPP) is an autosomal dominant muscle disease with electrophysiological abnormalities suggesting a defect in a voltage-gated sodium channel (NaCh) gene. A human NaCh gene was recently shown to cosegregate with the disease allele in a family with HYPP. Using an independent clone, we have demonstrated close genetic linkage between an NaCh gene and the HYPP locus in another family. With physiological data demonstrating abnormal NaCh function in HYPP patients, the ab ...[more]