Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein

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 reduction in the amount of protein. The consequences of a single mutation are sometimes multiple and the analysis of...

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Vydáno v:J Neuromuscul Dis
Hlavní autoři: Cacheux, Marine, Blum, Ariane, Sébastien, Muriel, Wozny, Anne Sophie, Brocard, Julie, Mamchaoui, Kamel, Mouly, Vincent, Roux-Buisson, Nathalie, Rendu, John, Monnier, Nicole, Krivosic, Renée, Allen, Paul, Lacour, Arnaud, Lunardi, Joël, Fauré, Julien, Marty, Isabelle
Médium: Artigo
Jazyk:Inglês
Vydáno: IOS Press 2015
Témata:
Research Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5240544/
https://ncbi.nlm.nih.gov/pubmed/27858745
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/JND-150073
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