Associated Papers
Genotype-phenotype correlations in recessive RYR1-related myopathies.
Amburgey K et al.
Orphanet Journal of Rare Diseases, 2013
23919265 (PubMed )
Supplement: 1750-1172-8-117-S1.xlsx › AR_Cases_in_Literature
Mapping domains and mutations on the skeletal muscle ryanodine receptor channel.
Hwang JH et al.
Trends in Molecular Medicine, 2012
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.
Monnier N et al.
Human Mutation, 2008
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