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 › All_Literature_Rev_Patients
Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms.
Duarte ST et al.
Muscle & Nerve, 2011
Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene.
Jungbluth H et al.
Neuromuscular Disorders : Nmd, 2009
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