Browse by author
Lookup NU author(s): Dr Charlotte Alston,
Professor Bobby McFarland,
Professor Rita Horvath,
Professor Robert Taylor
Full text for this publication is not currently held within this repository. Alternative links are provided below where available.
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.
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
Print publication date: 14/05/2010
ISSN (print): 0960-8966
ISSN (electronic): 1873-2364
Publisher: Elsevier Ltd.
Altmetrics provided by Altmetric