Display Settings:

Format

Send to:

Choose Destination
See comment in PubMed Commons below
Neurology. 1992 Feb;42(2):431-3.

Linkage of atypical myotonia congenita to a sodium channel locus.

Author information

  • 1Department of Neurology, University of Utah School of Medicine, Salt Lake City 84132.

Abstract

We performed linkage analysis in a pedigree segregating an allele for autosomal dominant, painful myotonia that is potassium sensitive and responsive to acetazolamide. This allele was tightly linked to a skeletal-muscle, sodium channel locus which is now a candidate for the site of the mutational defect in acetazolamide-responsive myotonia congenita. Since this sodium channel locus is completely linked to the disease allele in all hyperkalemic periodic paralysis and paramyotonia congenita pedigrees studied, the molecular alteration causing acetazolamide-responsive myotonia congenita is likely an allelic defect in this human, skeletal-muscle, sodium channel gene.

PMID:
1310531
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Loading ...
    Write to the Help Desk