作者: Georgirene D. Vladutiu , Zachary Simmons , Paul J. Isackson , Mark Tarnopolsky , Wendy L. Peltier
DOI: 10.1002/MUS.20567
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摘要: Lipid-lowering drugs produce myopathic side effects in up to 7% of treated patients, with severe rhabdomyolysis occurring as many 0.5%. Underlying metabolic muscle diseases have not been evaluated extensively. In a cross-sectional study 136 patients drug-induced myopathies, we report higher prevalence underlying than expected the general population. Control groups included 116 on therapy no symptoms, 100 asymptomatic individuals from population never exposed statins, and 106 non-statin-induced myopathies. Of 110 who underwent mutation testing, 10% were heterozygous or homozygous for mutations causing three compared 3% testing positive among (P = 0.04). The actual number mutant alleles found test group was increased fourfold over control < 0.0001) due an presence homozygotes. carriers carnitine palmitoyltransferase II deficiency McArdle disease 13- 20-fold, respectively, frequencies. Homozygotes myoadenylate deaminase 3.25-fold increase carrier status. 52% biopsies significant biochemical abnormalities mitochondrial fatty acid metabolism, 31% having multiple defects. Variable persistent symptoms occurred 68% despite cessation therapy. effect statins energy metabolism combined genetic susceptibility triggering may account outcomes certain high-risk groups.