Toggle Main Menu Toggle Search

Open Access padlockePrints

The pathogenic m.3243A > T mitochondrial DNA mutation is associated with a variable neurological phenotype

Lookup NU author(s): Dr Charlotte Alston, Professor Bobby McFarland, Professor Rita Horvath, Professor Robert Taylor

Downloads

Full text for this publication is not currently held within this repository. Alternative links are provided below where available.


Abstract

The m.3243A>G point mutation in the mitochondrial tRNA(Leu(UUR)) (MTTL1) gene is a common cause of mitochondrial DNA disease and is associated with a variety of clinical presentations. A different mutation occurring at the same site - an m.3243A>T transversion - is less prevalent, but has previously been observed in two patients with encephalopathy and lactic acidosis. We report the investigations of a further two patients with the m.3243A>T mutation who presented with either a chronic progressive external ophthalmoplegia (CPEO) phenotype or sensorineural hearing loss, with single fibre mutation studies confirming segregation of the m.3243A>T mutation with COX deficiency. (C) 2010 Elsevier B.V. All rights reserved.


Publication metadata

Author(s): Alston CL, Bender A, Hargreaves IP, Mundy H, Deshpande C, Klopstock T, McFarland R, Horvath R, Taylor RW

Publication type: Article

Publication status: Published

Journal: Neuromuscular Disorders

Year: 2010

Volume: 20

Issue: 6

Pages: 403-406

Print publication date: 14/05/2010

ISSN (print): 0960-8966

ISSN (electronic): 1873-2364

Publisher: Elsevier Ltd.

URL: http://dx.doi.org/10.1016/j.nmd.2010.04.003

DOI: 10.1016/j.nmd.2010.04.003


Altmetrics

Altmetrics provided by Altmetric


Actions

Find at Newcastle University icon    Link to this publication


Share