Article

Effects of HMGCR deficiency on skeletal muscle development

2024-05-08

Abstract excerpt

Pathogenic variants in HMGCR were recently linked to a limb-girdle muscular dystrophy (LGMD) phenotype. The protein product HMG CoA reductase (HMGCR) catalyzes a key component of the cholesterol synthesis pathway. The two other muscle diseases associated with HMGCR, statin-associated myopathy (SAM) and autoimmune anti-HMGCR myopathy, are not inherited in a Mendelian pattern. The mechanism linking pathogenic varia...

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Literature Corpus work: e39bcf4f-2168-5410-844c-fc3d836e5915
DOI: 10.1101/2024.05.06.591934

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