Article
Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone.
Proceedings of the National Academy of Sciences of the United States of America - 14 Feb 2023
Yogev Yuval, Shorer Zamir, Koifman Arie, Wormser Ohad, Drabkin Max, Halperin Daniel, Dolgin Vadim, Proskorovski-Ohayon Regina, Hadar Noam, Davidov Geula, Nudelman Hila, Zarivach Raz, Shelef Ilan, Perez Yonatan, Birk Ohad S
Abstract excerpt
Myopathy is the main adverse effect of the widely prescribed statin drug class. Statins exert their beneficial effect by inhibiting HMG CoA-reductase, the rate-controlling enzyme of the mevalonate pathway. The mechanism of statin myopathy is yet to be resolved, and its treatment is insufficient. Through homozygosity mapping and whole exome sequencing, followed by functional analysis using confocal microscopy and...
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