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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Bibliografski detalji
Glavni autori: 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
Jezik:Inglês
Izdano: BioMed Central 2013
Teme:
Research
Online pristup: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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