线粒体脑肌病

反复误诊的一例MELAS型线粒体脑肌病的临床病理研究

The Clinical and Pathological Study of A Patient with Multiple Misdiagnosed MELAS

研究背景线粒体脑肌病（Mitochondrialencephalopathy，ME）是一组因线粒体结构和（或）功能异常所致的以脑和肌肉受累为主的多系统疾病。

Background : Mitochondrial encephalopathy ( ME ), is a group of multi-system involvement disorders caused by structural and ( or ) functional dysfunction of mitochondria , which mainly involves central nervous system and skeletal muscles .

儿童线粒体脑肌病的脑部MRI表现与诊断

MRI appearances and diagnosis of mitochondrial encephalomyopathy in children

脑MRI是诊断儿童线粒体脑肌病的重要手段，但儿童线粒体脑肌病的确诊有赖于肌肉活检和基因检查。

But the definite diagnosis of mitochondrial encephalomyopathy depends on skeletal muscle biopsy and gene examination .

结论PCR结合限制性内切酶分析可作为线粒体脑肌病的分子诊断方法，可为其确诊提供有力的分子遗传学证据。

Conclusion PCR-restriction enzyme digestion can act as the method for molecular diagnosis of mitochondrial encephalomyopathy .

方法20例由肌肉活检及实验室检查证实为线粒体脑肌病的患儿，脑内均有MRI阳性表现，研究其MRI表现的类型。

Methods MRI evaluations were done in 20 children with mitochondrial encephalomyopathy proved by muscle biopsy and biochemical laboratory examinations .

目的探讨线粒体脑肌病患者骨骼肌细胞线粒体DNA基因突变情况及发病机制。

Objective To study the gene mutation in mitochondrial DNA in the patients with mitochondrial encephalomyopathies , and the pathogenic mechanism of mitochondrial encephalomyopathies .

方法搜集1996年1月至2002年12月经病理与实验室检查证实的16例儿童线粒体脑肌病及其脑部MRI表现，并进行回顾性分析。

Methods MRI manifestations in 16 children patients with mitochondrial encephalomyopathy , confirmed by pathology and laboratory examination from January of 1996 to December of 2002 , were retrospectively analyzed .

MELAS型线粒体脑肌病的临床、病理及影像学研究

The studies on clinical manifestations , histopathology and imaging of MELAS

目的：研究MELAS型线粒体脑肌病（MELAS综合征）的影像表现。

Purpose : To study the image findings of MELAS .

脑深部灰质多发对称性斑片状异常信号是儿童线粒体脑肌病的脑部MRI主要表现；

The main MRI findings were multiple symmetrical abnormal signal intensities in the deep grey matter , and MRI is an important way to show the cerebral lesions and benefit to the diagnosis of mitochondrial encephalomyopathy .

MELAS型线粒体脑肌病1例临床病理

The Clinical and Pathological Manifestations of MELAS Type Mitochondrial Encephalomyopathy in One Patient

目的分析误诊为单纯疱疹病毒性脑炎（HSE）的8例线粒体脑肌病伴乳酸血症和卒中样发作（MELAS）综合征的临床特征。

Objective To analyze clinical characteristics of 8 cases of MELAS syndrome that misdiagnosed as herpes simplex virus encephalitis ( HSE ) .

报告3例线粒体脑肌病MELAS型患者的临床资料及病理特点。其中2例为一家系兄妹2人，另1例为散发。

Purpose : To report clinical and pathological characterisitics of 3 cases with mitochondrial encephalo-myopathy ( MELAS type ) including 2 cases from one family and 1 sporadic case .

中枢神经系统血管炎与线粒体脑肌病的诊断与鉴别诊断

Differential diagnosis of central nervous system vasculitis and mitochondrial encephalomyopathy

目的探讨线粒体脑肌病的分子生物学诊断方法。

Objective To investigate molecular diagnosis method for mitochondrial encephalomyopathy .

线粒体脑肌病2例临床、影像及病理分析

Analysis of two mitochondrial encephalomyopathy cases on clinical 、 image and pathology

目的：探索线粒体脑肌病患者脑动脉影像学特点。

Objective : To explore Cerebral vascular changes in patients with Mitochondrial encephalomyopathy .

结论小儿线粒体脑肌病罕见，临床特点及肌肉病理检查是诊断本病的重要根据。

The clinical features and muscle biopsy are essential for diagnosis of the disease .

成人线粒体脑肌病的临床与影像学表现特征分析

Clinical and imaging manifestations of adult mitochondrial encephalomyopathy

儿童线粒体脑肌病9例脑部磁共振成像表现

MRI Appearances of 9 Children with Mitochondrial Encephalomyopathy

癌性肌病和线粒体脑肌病肌肉接头处的电镜研究

Ultrastructural study on neuromuscular junction of patients with lambert Eaton myasthenia syndrome or mitochondrial encephalomyopathy

线粒体脑肌病研究进展

Research progress on mitochondrial encephalomyopathy

36例肌源性损害中，确诊为进行性肌营养不良18例，多发性肌炎2例，线粒体脑肌病1例，未确诊15例。

In 36 myogenic patients , clinical diagnosis were as follow : progressive muscular dystrophy ( PMD , 18 cases ), polymyositis ( 2 cases ), mitochondrial encephalomyopathy ( 1 case ), and the other 15 cases had no definite diagnosis .

目的为了检测线粒体肌病和脑肌病患者的骨骼肌细胞的线粒体DNA的缺失情况。

Objective To study the mitochondrial DNA deletion of mitochondrial myopathy and mitochondrial encephalomyopathy .

线粒体肌病和脑肌病外周血细胞线粒体DNA的定量分析

Quantitative analysis of mitochondrial DNA in peripheral blood cells of patients with mitochondrial myopathy / encephalomyopathy

结论mtDNA基因缺失是线粒体肌病和脑肌病的重要病因之一。

Conclusion The mtDNA deletion is considered to be an important cause of mitochondrial diseases .

线粒体肌病和脑肌病患者线粒体基因缺失的研究

Study in mitochondrial gene defect of patients with mitochondrial myopathy and encephalomyopathy

原发性线粒体肌病与脑肌病（附53例报告）

Primary mitochondrial myopathy and encephalo myopathy ( A report of 53 cases )

线粒体肌病与线粒体脑肌病的酶组织化学和超微结构改变

Changes of enzyme histochemistry and ultrastructure in mitochondrial myopathy and encephalomyopathy