Vol 48, No 2 (2014)

open access

Page views 398
Article views/downloads 5739
Get Citation

Connect on Social Media

Connect on Social Media

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

Magdalena Hoptasz1, Adam Szczuciński12, Jacek Losy134
DOI: 10.1016/j.pjnns.2013.12.007
Neurol Neurochir Pol 2014;48(2):150-153.

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.

Article available in PDF format

View PDF Download PDF file



Neurologia i Neurochirurgia Polska