Heterogeneous phenotypic manifestations of maternally inherited deafness associated with the mitochondrial A3243G mutation. Case report

被引：5
|
作者：
Hoptasz, Magdalena [1 ]
Szczucinski, Adam [1 ,2 ]
Losy, Jacek [1 ,3 ,4 ]
机构：
[1] Univ Med Sci, Clin Hosp H Swiecicki, Dept Clin Neurol, Poznan, Poland
[2] Univ Med Sci, Dept Neurochem & Neuropathol, Poznan, Poland
[3] Univ Med Sci, Chair Neurol, Dept Clin Neuroimmunol, Poznan, Poland
[4] Polish Acad Sci, Inst Expt & Clin Med, Neuroimmunol Unit, Poznan, Poland
来源：
NEUROLOGIA I NEUROCHIRURGIA POLSKA | 2014年 / 48卷 / 02期
关键词：
Mitochondrial disorder; A3243G mutation; Maternally inherited deafness; Mitochondrial encephalomyopathy lactic acidosis and strokelike episodes; DNA MUTATION; HETEROPLASMY; MELAS;
D O I：
10.1016/j.pjnns.2013.12.007
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
The A3243G mutation is one of the most frequent mutations of mitochondrial DNA. The phenotypic expression of the A3243G mutation is variable and causes a wide range of syndromic and non-syndromic clinical disorders. Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome is the most frequent syndromic manifestation of the A3243G mutation. Stroke-like episodes seem to be the dominant feature of MELAS. We have investigated the case of a family with A3243G mutation, in which a dominant symptom in three generations was the maternally inherited hearing loss with absence of stroke-like episodes. Besides deafness, we found also other clinical features such as myopathy, neuropathy, migraine, ataxia, short stature, diabetes mellitus, and cardiomyopathy. (C) 2014 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.
引用
收藏
页码：150 / 153
页数：4
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