Ontology highlight
ABSTRACT:
SUBMITTER: Ptacek LJ
PROVIDER: S-EPMC1683172 | biostudies-other | 1991 Oct
REPOSITORIES: biostudies-other
Ptacek L J LJ Trimmer J S JS Agnew W S WS Roberts J W JW Petajan J H JH Leppert M M
American journal of human genetics 19911001 4
Paramyotonia congenita (PC), an autosomal dominant muscle disease, shares some clinical and electrophysiological similarities with another myotonic muscle disorder, hyperkalemic periodic paralysis (HYPP). However, clinical and electrophysiologic differences allow differentiation of the two disorders. The HYPP locus was recently shown to be linked to a skeletal muscle sodium-channel gene probe. We now report that PC maps to the same locus (LOD score 4.4, theta = 0 at assumed penetrance of .95). T ...[more]