Coenzyme Q10 deficiency and isolated myopathy
Coenzyme Q10 deficiency and isolated myopathy
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DOI：
10.1212/01.wnl.0000194241.35115.7c
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发表时间：
2006-01-24
期刊：
影响因子：
9.9
通讯作者：
Lochmüller, H
中科院分区：
文献类型：
--
作者：
Horvath, R;Schneiderat, P;Lochmüller, H
3例不相关的散发性肌肉辅酶Q10 （CoQ10）缺乏患者分别出现在32岁、29岁和6岁，伴有近端肌肉无力和血清肌酸激酶（CK）和乳酸水平升高，但无肌红蛋白尿、共济失调或癫痫发作。肌肉活检显示脂质储存性肌病，呼吸链复合物I和III合并缺乏，辅酶q10水平低于正常水平的50%。口服大剂量辅酶q10可显著提高肌力，使血清CK正常化。
Three unrelated, sporadic patients with muscle coenzyme Q10 (CoQ10) deficiency presented at 32, 29, and 6 years of age with proximal muscle weakness and elevated serum creatine kinase (CK) and lactate levels, but without myoglobinuria, ataxia, or seizures. Muscle biopsy showed lipid storage myopathy, combined deficiency of respiratory chain complexes I and III, and CoQ10 levels below 50% of normal. Oral high-dose CoQ10 supplementation improved muscle strength dramatically and normalized serum CK.