open access

Vol 48, No 2 (2014)
Case reports
Submitted: 2013-04-16
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Heterogeneous phenotypic manifestations of maternally inherited deafness associated with the mitochondrial A3243G mutation. Case report

Magdalena Hoptasz, Adam Szczuciński, Jacek Losy
DOI: 10.1016/j.pjnns.2013.12.007
·
Neurol Neurochir Pol 2014;48(2):150-153.

open access

Vol 48, No 2 (2014)
Case reports
Submitted: 2013-04-16

Abstract

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.

Abstract

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.

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Keywords

Mitochondrial disorder, A3243G mutation, Maternally inherited deafness, Mitochondrial encephalomyopathy, lactic acidosis and strokelike episodes

About this article
Title

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

Journal

Neurologia i Neurochirurgia Polska

Issue

Vol 48, No 2 (2014)

Pages

150-153

DOI

10.1016/j.pjnns.2013.12.007

Bibliographic record

Neurol Neurochir Pol 2014;48(2):150-153.

Keywords

Mitochondrial disorder
A3243G mutation
Maternally inherited deafness
Mitochondrial encephalomyopathy
lactic acidosis and strokelike episodes

Authors

Magdalena Hoptasz
Adam Szczuciński
Jacek Losy

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