Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19

Genomics. 1991 Jul;10(3):765-9. doi: 10.1016/0888-7543(91)90461-m.

Abstract

Central core disease of muscle (CCD; MIM 117000) is a rare inheritable myopathy that is frequently found in association with susceptibility to malignant hyperthermia (MHS). This observation has prompted us to perform a linkage study in CCD families using various chromosome 19q probes that are linked to the MHS locus and map close to the ryanodine receptor gene (RYR1), a strong MHS candidate gene. Our genetic linkage data support a location of the CCD gene on proximal 19q13.1 and thus suggest that CCD and MHS may be allelic.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Chromosome Mapping
  • Chromosomes, Human, Pair 19*
  • DNA Probes
  • Genes
  • Genetic Markers
  • Humans
  • Lod Score
  • Malignant Hyperthermia / genetics*
  • Muscular Diseases / genetics*
  • Receptors, Cholinergic / genetics
  • Ryanodine Receptor Calcium Release Channel

Substances

  • DNA Probes
  • Genetic Markers
  • Receptors, Cholinergic
  • Ryanodine Receptor Calcium Release Channel