title: The pathogenic m.3243A>T mitochondrial DNA mutation is associated with a variable neurological phenotype.
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.
authors.affiliation: Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne, UK.
authors.forename: Charlotte L
authors.initials: CL
authors.lastname: Alston
authors.forename: Andreas
authors.initials: A
authors.lastname: Bender
authors.forename: Iain P
authors.initials: IP
authors.lastname: Hargreaves
authors.forename: Helen
authors.initials: H
authors.lastname: Mundy
authors.forename: Charulata
authors.initials: C
authors.lastname: Deshpande
authors.forename: Thomas
authors.initials: T
authors.lastname: Klopstock
authors.forename: Robert
authors.initials: R
authors.lastname: McFarland
authors.forename: Rita
authors.initials: R
authors.lastname: Horvath
authors.forename: Robert W
authors.initials: RW
authors.lastname: Taylor
mesh_terms: D000140:Acidosis, Lactic / Q000235:genetics; D000328:Adult; D001927:Brain Diseases / Q000209:etiology / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics*; D005190:Family; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D028361:Mitochondrial Diseases / Q000235:genetics; D018485:Muscle Fibers, Skeletal / Q000473:pathology; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D009422:Nervous System Diseases / Q000235:genetics* / Q000473:pathology; D009886:Ophthalmoplegia / Q000235:genetics / Q000473:pathology; D010641:Phenotype; D011451:Prostaglandin-Endoperoxide Synthases / Q000172:deficiency / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D055815:Young Adult
chemical_list: D004272:DNA, Mitochondrial; D011451:Prostaglandin-Endoperoxide Synthases