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Functional characterization of a Central Core Disease RyR1 mutation (p.Y4864H) associated with quantitative defect in RyR1 protein

Archive ouverte | Cacheux, Marine | CCSD

International audience. BACKGROUND: Central Core Disease (CCD) is a congenital myopathy often resulting from a mutation in RYR1 gene. Mutations in RyR1 can increase or decrease channel activity, or induce a reductio...

Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathy.

Archive ouverte | Rendu, John | CCSD

International audience. Central core disease is a myopathy often arising from mutations in the type 1 ryanodine receptor (RYR1) gene, encoding the sarcoplasmic reticulum calcium release channel RyR1. No treatment is...

Interplay between triadin and calsequestrin in the pathogenesis of CPVT in mouse

Archive ouverte | Cacheux, Marine | CCSD

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