Bi-allelic Variants in HMGCR Cause an Autosomal-Recessive Progressive Limb-Girdle Muscular Dystrophy
AMERICAN JOURNAL OF HUMAN GENETICS（2023）
Key words
HMG-CoA reducatase,limb-girdle like muscular dystrophy,rare genetic disease,HMGCR,mevalonate pathway,autoimmune myopathy,statin-induced myopathy
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