A recessive ryanodine receptor 1 mutation in a CCD patient increases channel activity.

ABSTRACT: Ryanodine receptors plays a crucial role in skeletal muscle excitation-contraction coupling by releasing calcium ions required for muscle contraction from the sarcoplasmic reticulum. At least three phenotypes associated with more than 100 RYR1 mutations have been identified; in order to elucidate possible pathophysiological mechanisms of RYR1 mutations linked to neuromuscular disorders, it is essential to define the mutation class by studying the functional properties of channels harbouring clinically relevant amino acid substitutions. In the present report we investigated the functional effects of the c.7304G>T RYR1 substitution (p.Arg2435Leu) found in a patient affected by central core disease. Both parents were heterozygous for the substitution while the proband was homozygous. We chara

SUBMITTER: Ghassemi F 

PROVIDER: S-EPMC2662321 | biostudies-literature | 2009 Feb

REPOSITORIES: biostudies-literature