MITOCHONDRIAL ENCEPHALOMYOPATHY - VARIABLE CLINICAL EXPRESSION WITHIN A SINGLE KINDRED
MITOCHONDRIAL ENCEPHALOMYOPATHY - VARIABLE CLINICAL EXPRESSION WITHIN A SINGLE KINDRED
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DOI：
10.1136/jnnp.56.8.900
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发表时间：
1993-08-01
影响因子：
11
通讯作者：
PAMPHLETT, R
中科院分区：
文献类型：
--
作者：
CRIMMINS, D;MORRIS, JGL;PAMPHLETT, R
线粒体脑肌病的临床表现在一个家族的四代中均有描述。主要神经系统紊乱的发病年龄为 3 至 70 岁。在一些患者中，耳聋是唯一的表现；在另一些情况下，反复发作的癫痫持续状态与局灶性神经功能缺损和头痛相关，导致严重残疾或死亡。所有三种成人形式的线粒体脑肌病的例子：MELAS、MERFF 和 Kearns Sayre 综合征，均在亲属中出现。相关特征包括耳聋、身材矮小、非胰岛素依赖型糖尿病、偏头痛、消化性溃疡和严重便秘。在该亲属的两名成员中检测到 nt 3243 A-G MELAS 突变。这项研究强调了单个家族内线粒体突变临床表达的多样性。
The clinical manifestations of mitochondrial encephalomyopathy are described in four generations of a single kindred. The age of onset of major neurological disturbance varied from 3-70 years. In some patients, deafness was the only manifestation; in others, recurrent bouts of status epilepticus associated with focal neurological deficits and headache, caused severe disability or death. Examples of all three adult forms of mitochondrial encephalomyopathy: MELAS, MERFF and Kearns Sayre syndrome, were represented within the kindred. Associated features included deafness, short stature, non-insulin-dependent diabetes mellitus, migraine, peptic ulceration and severe constipation. The nt 3243 A-G MELAS mutation was detected in two members of the kindred. This study highlights the diversity of clinical expression of a mitochondrial mutation within a single kindred.