Format

Send to

Choose Destination
See comment in PubMed Commons below
Nat Genet. 1993 Sep;5(1):46-50.

A mutation in the human ryanodine receptor gene associated with central core disease.

Author information

1
Banting and Best Department of Medical Research, University of Toronto, Charles H. Best Institute, Ontario, Canada.

Abstract

Central core disease (CCD) is a morphologically distinct, autosomal dominant myopathy with variable clinical features. A close association with malignant hyperthermia (MH) has been identified. Since MH and CCD genes have been linked to the skeletal muscle ryanodine receptor (RYR1) gene, cDNA sequence analysis was used to search for a causal RYR1 mutation in a CCD individual. The only amino acid substitution found was an Arg2434His mutation, resulting from the substitution of A for G7301. This mutation was linked to CCD with a lod score of 4.8 at a recombinant fraction of 0.0 in 16 informative meioses in a 130 member family, suggesting a causal relationship to CCD.

PMID:
8220422
DOI:
10.1038/ng0993-46
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Nature Publishing Group
    Loading ...
    Support Center