Associated Papers
Biallelic variants in RYR1 and STAC3 are predominant causes of King-Denborough Syndrome in an African cohort.
Schoonen M et al.
European Journal of Human Genetics : Ejhg, 2025
Neuromuscular disease genetics in under-represented populations: increasing data diversity.
Wilson LA et al.
Brain : a Journal of Neurology, 2023
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
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