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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.
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.
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