线粒体DNA疾病所致眼肌麻痹：基因诊断的必要性。

Ophthalmoplegia due to mitochondrial DNA disease: the need for genetic diagnosis.

作者信息

Schaefer Andrew M, Blakely Emma L, Griffiths Philip G, Turnbull Douglass M, Taylor Robert W

机构信息

School of Neurology, Neurobiology and Psychiatry, The Medical School, Framlington Place, University of Newcastle upon Tyne, Newcastle upon Tyne NE2 4HH, United Kingdom.

出版信息

Muscle Nerve. 2005 Jul;32(1):104-7. doi: 10.1002/mus.20319.

DOI:10.1002/mus.20319

PMID:15795893

Abstract

We describe a patient with chronic progressive external ophthalmoplegia (CPEO) who underwent muscle biopsy for suspected mitochondrial disease. In spite of normal histocytochemical cytochrome c oxidase (COX) activity and respiratory chain enzyme measurements in muscle, subsequent molecular genetic analysis revealed the presence of a single, large-scale deletion of mitochondrial DNA (mtDNA). The case serves to illustrate the importance of pursuing the proposed mitochondrial genetic abnormality, even in patients with normal biopsy findings.

摘要

我们描述了一名患有慢性进行性眼外肌麻痹（CPEO）的患者，该患者因疑似线粒体疾病接受了肌肉活检。尽管肌肉组织化学细胞色素c氧化酶（COX）活性和呼吸链酶测量结果正常，但随后的分子遗传学分析显示存在线粒体DNA（mtDNA）的单一、大规模缺失。该病例说明了即使活检结果正常，追查拟议的线粒体基因异常的重要性。