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
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
Töpf A et al.
Nature Genetics, 2024
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