A RYR1 mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian families

Muscle Nerve. 2009 Oct;40(4):633-9. doi: 10.1002/mus.21397.

Abstract

In this study we present 3 families with malignant hyperthermia (MH), all of Indian subcontinent descent. One individual from each of these families was fully sequenced for RYR1 and presented with the non-synonymous change c.11315G>A/p.R3772Q. When present in the homozygous state c.11315*A is associated with myopathic symptoms.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Asian People
  • Consanguinity
  • DNA / genetics
  • DNA, Complementary / biosynthesis
  • DNA, Complementary / genetics
  • Family
  • Female
  • Genes, Dominant
  • Genes, Recessive
  • Humans
  • Immunohistochemistry
  • Male
  • Malignant Hyperthermia / genetics*
  • Middle Aged
  • Muscle, Skeletal / pathology
  • Muscular Diseases / congenital
  • Muscular Diseases / genetics*
  • Pedigree
  • Phenotype
  • Ryanodine Receptor Calcium Release Channel / genetics*
  • Spasm / genetics
  • Spasm / pathology

Substances

  • DNA, Complementary
  • Ryanodine Receptor Calcium Release Channel
  • DNA