These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Evidence of genetic heterogeneity among the nondystrophic myotonias.
    Author: Ptacek LJ, Ziter FA, Roberts JW, Leppert MF.
    Journal: Neurology; 1992 May; 42(5):1046-8. PubMed ID: 1315941.
    Abstract:
    Recent in vitro electrophysiologic studies have demonstrated abnormal sodium channel gating in muscle from patients with Thomsen's disease and have called the chloride hypothesis into question. Abnormal sodium channel function, like myotonia, is a feature common to Thomsen's disease and several myotonias that are genetically linked to a chromosome-17q sodium channel locus. We present a pedigree segregating an allele for Thomsen's disease that is unlinked to this sodium channel locus, thus constituting evidence of genetic heterogeneity among the nondystrophic myotonias.
    [Abstract] [Full Text] [Related] [New Search]