A mitochondrial encephalomyopathy with a partial cytochrome c oxidase deficiency of muscle.
A mitochondrial encephalomyopathy with a partial cytochrome c oxidase deficiency of muscle.
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一种线粒体脑肌病，伴有肌肉部分细胞色素 C 氧化酶缺乏。
DOI：
10.1136/jnnp.51.5.704
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发表时间：
1988
期刊：
影响因子：
--
通讯作者：
A. Stadhouders
中科院分区：
文献类型：
--
作者：
P. M. van Erven;F. Gabreëls;W. Ruitenbeek;W. Renier;H. T. ter Laak;A. Stadhouders
一名 16 岁女孩表现出精神运动发育迟缓。在婴儿期，运动不耐受、小脑体征随着并发感染的增加而恶化，呼吸和心律紊乱也变得明显。从 7 岁起，患者出现慢性进行性精神运动恶化，伴有肌张力减退、双侧锥体和小脑综合征以及轻度癫痫。脑脊液丙酮酸和乳酸水平升高，尿液中乳酸含量升高。适度运动时乳酸水平异常升高，对丙酮酸负荷反应异常。 10 岁和 16 岁时获得的股四头肌活检显示，纤维呈参差不齐的红色，细胞色素 c 氧化酶活性和细胞色素 aa3 含量降低。成纤维细胞中细胞色素c氧化酶活性正常。与线粒体能量代谢紊乱相关的临床体征和症状使我们诊断出可能患有利氏综合征。
A 16 year old girl showed delayed psychomotor development. In infancy, exercise intolerance, cerebellar signs, deteriorated with increasing intercurrent infections, and disturbances of breathing and cardiac rhythm became manifest. From the age of 7 years there was chronic progressive psychomotor deterioration, with hypotonia, a bilateral pyramidal and cerebellar syndrome, and mild epilepsy. CSF pyruvate and lactate levels were elevated, and lactate content was elevated in the urine. There was an abnormally high rise of lactate levels on moderate exercise and an abnormal response to pyruvate loading. Quadriceps muscle biopsies obtained at age 10 and 16 years showed ragged-red fibres, and a decreased cytochrome c oxidase activity and cytochrome aa3 content. Cytochrome c oxidase activity in fibroblasts was normal. Clinical signs and symptoms in association with a disturbance of mitochondrial energy metabolism led us to diagnosis of probable Leigh syndrome.
DOI：
10.1073/pnas.77.11.6715
发表时间：
1980-01-01
期刊：
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES
影响因子：
--
作者：
GILES, RE;BLANC, H;WALLACE, DC
通讯作者：
WALLACE, DC