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

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


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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.


DOI: 10.1016/j.nmd.2010.04.003


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Funder referenceFunder name
UK National Commissioning Group for Rare Mitochondrial Disorders of Adults and Children Service
Wellcome Trust
01GM0862German ministry of education and research (BMBF), Bonn, Germany