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PMID: 1654742 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus.

American journal of human genetics ·Vol. 49 ·No. 4 ·1991-10-00 ·Pages 851-4

Ptacek LJ, Trimmer JS, Agnew WS, Roberts JW, Petajan JH, Leppert M

Abstract

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). These linkage results, coupled with physiological data demonstrating abnormal sodium-channel function in patients with PC, implicate a sodium-channel gene as an important candidate for the site of mutation responsible for PC. Furthermore, this is strong evidence for the hypothesis that PC and HYPP are allelic disorders.

MeSH Terms
DNA Probes/genetics Female Genes, Dominant/genetics Genetic Linkage/genetics Humans Hyperkalemia/genetics,physiopathology Lod Score Male Muscles/metabolism Mutation/genetics Myotonia Congenita/genetics,physiopathology Paralyses, Familial Periodic/genetics,physiopathology Pedigree Sodium Channels/genetics
Chemicals
DNA Probes Sodium Channels
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Ptacek L J
Department of Neurology, University of Utah School of Medicine, Salt Lake City 84132.
Trimmer J S
Agnew W S
Roberts J W
Petajan J H
Leppert M
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15 references, click to expand
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1991-10-00
Pages
851-4
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1683172
Subset
IM
Grants
NHGRI NIH HHS · 8R01 HG00367 · United States
NCRR NIH HHS · M01-RR00064 · United States
External Links
PubMed source PMC Full Text View journal details
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