Associated Papers
HMGCR-related muscular dystrophy: a case of severe neonatal-onset form.
Upadia J et al.
Neuromuscular Disorders : Nmd, 2026
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy.
Morales-Rosado JA et al.
American Journal of Human Genetics, 2023
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