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

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