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常染色体显性遗传性进行性眼外肌麻痹中的横纹肌溶解症

Rhabdomyolysis in autosomal dominant progressive external ophthalmoplegia.

作者信息

Melberg A, Holme E, Oldfors A, Lundberg P O

机构信息

Department of Neurology, Uppsala University Hospital, Sweden.

出版信息

Neurology. 1998 Jan;50(1):299-300. doi: 10.1212/wnl.50.1.299.

DOI:10.1212/wnl.50.1.299
PMID:9443501
Abstract

Multiple mtDNA deletions have been reported to be a cause of inherited recurrent myoglobinuria. We report a 57-year-old man with autosomal dominant progressive external ophthalmoplegia and multiple mtDNA deletions who developed acute rhabdomyolysis provoked by alcohol. A repeated alcohol intake resulted in a 57-fold increase in serum myoglobin. Patients with mitochondrial myopathy and multiple mtDNA deletions, regardless of associated phenotype and mode of inheritance, may develop rhabdomyolysis.

摘要

据报道,多个线粒体DNA缺失是遗传性复发性肌红蛋白尿的一个病因。我们报告了一名57岁男性,患有常染色体显性进行性眼外肌麻痹和多个线粒体DNA缺失,他因酒精引发了急性横纹肌溶解症。反复摄入酒精导致血清肌红蛋白升高了57倍。患有线粒体肌病和多个线粒体DNA缺失的患者,无论其相关表型和遗传方式如何,都可能发生横纹肌溶解症。

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Rhabdomyolysis in autosomal dominant progressive external ophthalmoplegia.常染色体显性遗传性进行性眼外肌麻痹中的横纹肌溶解症
Neurology. 1998 Jan;50(1):299-300. doi: 10.1212/wnl.50.1.299.
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Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA instability and the initiation of a genetic classification.
以线粒体DNA多处缺失为特征的进行性眼外肌麻痹:揭示人类线粒体DNA不稳定性的发病机制及启动遗传分类。
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