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伴有线粒体异常的肌病，呼吸链中短暂的低电子传递能力，以及体外1和2位点的能量转导缺失。

Myopathy with abnormal mitochondria, transient low electron transport capacity in the respiratory chain, and absence of energy transduction at sites 1 and 2 in vitro.

作者信息

Trockel U, Scholte H R, Toyka K V, Busch H F, Luyt-Houwen I E, Berden J A

出版信息

J Neurol Neurosurg Psychiatry. 1986 Jun;49(6):645-50. doi: 10.1136/jnnp.49.6.645.

DOI:10.1136/jnnp.49.6.645
PMID:3016196
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1028845/
Abstract

A male adult with exercise-related myalgia and weakness from the age of 17 years, developed contractions after moderate exertion which were electrically silent. Triglyceride loading or prolonged fasting provoked excessive ketosis. His isolated muscle mitochondria had severe blockade of the respiratory chain, particularly of NADH-CoQ reductase. After 1.5 years a second biopsy was performed. The electron transport capacity of the respiratory chain was much improved, but now a lesion was observed in energy transduction of sites 1 and 2 of the respiratory chain. The unexpected abolishment of respiratory chain blockade was paralleled by only mild clinical improvement.

摘要

一名17岁起就患有运动相关肌痛和肌无力的成年男性，在适度运动后出现无电活动的肌肉收缩。甘油三酯负荷或长时间禁食会引发过度酮症。他分离出的肌肉线粒体存在呼吸链的严重阻滞，尤其是NADH - 辅酶Q还原酶。1.5年后进行了第二次活检。呼吸链的电子传递能力有了很大改善，但此时在呼吸链第1和第2位点的能量转导中观察到病变。呼吸链阻滞意外消除的同时，临床症状仅有轻微改善。

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Myopathy with abnormal mitochondria, transient low electron transport capacity in the respiratory chain, and absence of energy transduction at sites 1 and 2 in vitro.伴有线粒体异常的肌病，呼吸链中短暂的低电子传递能力，以及体外1和2位点的能量转导缺失。
J Neurol Neurosurg Psychiatry. 1986 Jun;49(6):645-50. doi: 10.1136/jnnp.49.6.645.
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引用本文的文献

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本文引用的文献

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Carnitine palmityl transferase deficiency: myoglobinuria and respiratory failure.肉碱棕榈酰转移酶缺乏症：肌红蛋白尿和呼吸衰竭。
Neurology. 1980 Mar;30(3):263-71. doi: 10.1212/wnl.30.3.263.
2
Glutaric aciduria type II: multiple defects in isolated muscle mitochondria and deficient beta-oxidation in fibroblasts.II型戊二酸尿症：分离的肌肉线粒体中的多种缺陷和成纤维细胞中β-氧化缺陷
J Inherit Metab Dis. 1984;7 Suppl 2:101-2. doi: 10.1007/978-94-009-5612-4_25.
3
Mitochondrial myopathies. Clinical, morphological and biochemical aspects.线粒体肌病。临床、形态学及生化方面
Eur J Pediatr. 1984 Feb;141(4):192-207. doi: 10.1007/BF00572761.
4
Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency.由可逆性细胞色素c氧化酶缺乏引起的良性婴儿线粒体肌病。
Ann Neurol. 1983 Aug;14(2):226-34. doi: 10.1002/ana.410140209.
5
An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes.一种影响心肌、骨骼肌和中性粒细胞的X连锁线粒体疾病。
J Neurol Sci. 1983 Dec;62(1-3):327-55. doi: 10.1016/0022-510x(83)90209-5.
6
A standardized forearm ischemic exercise test.一项标准化的前臂缺血运动试验。
Neurology. 1970 Dec;20(12):1171-8. doi: 10.1212/wnl.20.12.1171.
7
Changes in tissue levels of carnitine and other metabolites during myocardial ischemia and anoxia.心肌缺血和缺氧期间肉碱及其他代谢物的组织水平变化。
Arch Biochem Biophys. 1978 Apr 15;187(1):25-33. doi: 10.1016/0003-9861(78)90003-6.
8
The prolonged exercise test.
Neurology. 1979 May;29(5):636-43. doi: 10.1212/wnl.29.5.636.
9
Muscle wasting and carbohydrate homeostasis in Duchenne muscular dystrophy.杜氏肌营养不良症中的肌肉萎缩与碳水化合物稳态
Neurology. 1978 Dec;28(12):1224-31. doi: 10.1212/wnl.28.12.1224.
10
Coenzyme A and carnitine distribution in normal and ischemic hearts.
J Biol Chem. 1978 Jun 25;253(12):4310-8.