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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Detaylı Bibliyografya
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2013
Konular:
Research
Online Erişim: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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