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[杜兴型进行性肌营养不良患者外周血白细胞中的苹果酸脱氢酶及其同工酶]

[Malate dehydrogenase and its isoenzymes in the peripheral blood leukocytes in progressive muscular dystrophy of the Duchenne type].

作者信息

Wiśniewska W, Lukasiuk M

出版信息

Neurol Neurochir Pol. 1985 Jul-Aug;19(4):318-22.

PMID:4094644
Abstract

The authors studied the composition of isoenzymes of malic dehydrogenase in peripheral blood leucocytes of patients with Duchenne-type progressive muscular dystrophy, their mothers and sisters, and also in other primary muscular diseases. The studied group included 25 patients with Duchenne dystrophy, 20 their mothers and sisters, and 11 patients with other primary muscular diseases. The control group comprised 10 healthy subjects aged 19-40 years. Sporadically a decrease was observed of total activity and of the amount of the mitochondrial isoenzyme of MDH in Duchenne dystrophy. In one case the m-MDH isoenzyme was completely absent, this patient had most advanced disease. In the mothers of patients decreased MDH activity occurred rarely (once in 13 mothers) and the pattern of MDH isoenzymes was normal, similarly as in sisters of these patients. In other primary muscular diseases no abnormalities were found.

摘要

作者研究了杜兴型进行性肌营养不良患者及其母亲和姐妹外周血白细胞中苹果酸脱氢酶同工酶的组成,同时也研究了其他原发性肌肉疾病患者外周血白细胞中该同工酶的组成。研究组包括25例杜兴肌营养不良患者、20例其母亲和姐妹以及11例其他原发性肌肉疾病患者。对照组由10名年龄在19至40岁之间的健康受试者组成。在杜兴肌营养不良患者中,偶尔会观察到苹果酸脱氢酶的总活性和线粒体同工酶含量降低。有1例患者完全缺乏m-MDH同工酶,该患者病情最为严重。在患者的母亲中,MDH活性降低的情况很少见(13名母亲中仅有1例),MDH同工酶模式正常,这些患者的姐妹也是如此。在其他原发性肌肉疾病中未发现异常。

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