Novel Excitation-Contraction Uncoupled RYR1 Mutations in Patients With Central Core Disease

Central core disease, one of the most common congenital myopathies in humans, has been linked to mutations in the RYR1 gene encoding the Ca(2+) release channel of the sarcoplasmic reticulum (RyR1). Functional analyses showed that disease-associated RYR1 mutations led to impairment of skeletal muscle...

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Main Authors: Kraeva, Natalia, Zvaritch, Elena, Rossi, Ann E., Goonasekera, Sanjeewa A., Zaid, Hilal, Frodis, Wanda, Kraev, Alexander, Dirksen, Robert T., MacLennan, David H., Riazi1, Sheila
Format: Artigo
Language:Inglês
Published: 2012
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Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3563839/
https://ncbi.nlm.nih.gov/pubmed/23183335
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2012.08.007
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