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
Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.
Clarke NF et al.
Human Mutation, 2010
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