Genotype-phenotype correlations in recessive RYR1-related myopathies

BACKGROUND: RYR1 mutations are typically associated with core myopathies and are the most common overall cause of congenital myopathy. Dominant mutations are most often associated with central core disease and malignant hyperthermia, and genotype-phenotype patterns have emerged from the study of the...

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Détails bibliographiques
Auteurs principaux: Amburgey, Kimberly, Bailey, Angela, Hwang, Jean H, Tarnopolsky, Mark A, Bonnemann, Carsten G, Medne, Livija, Mathews, Katherine D, Collins, James, Daube, Jasper R, Wellman, Gregory P, Callaghan, Brian, Clarke, Nigel F, Dowling, James J
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2013
Sujets:
Research
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3751094/
https://ncbi.nlm.nih.gov/pubmed/23919265
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-117
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