title: A novel sporadic mutation G14739A of the mitochondrial tRNA(Glu) in a girl with exercise intolerance.
abstract: We describe a 7-year-old girl who presented with loss of appetite, weakness and excercise intolerance. Enzyme investigation of the respiratory chain in muscle tissue revealed a combined complex I, III and IV deficiency. A novel heteroplasmic G-->A exchange at nucleotide position 14739 was found in the MTTE gene of the tRNA glutamic acid. The mutation load in muscle was 72%, urine sediment 38%, blood 31% and fibroblasts 29% and it correlated with COX-negative fibres. Our patient presented with a predominantly myopathic phenotype. The G14739A mutation is the third reported in the mitochondrial tRNA glutamic acid gene, and it occurred in a sporadic case.
authors.affiliation: University Children's Hospital, Paracelsus Private Medical University, Müllner Hauptstr 48, A-5020 Salzburg, Austria. h.mayr@salk.at
authors.forename: Johannes A
authors.initials: JA
authors.lastname: Mayr
authors.forename: Ali-Reza
authors.initials: AR
authors.lastname: Moslemi
authors.forename: Holger
authors.initials: H
authors.lastname: Förster
authors.forename: Adrian
authors.initials: A
authors.lastname: Kamper
authors.forename: Carmen
authors.initials: C
authors.lastname: Idriceanu
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Muss
authors.forename: Michael
authors.initials: M
authors.lastname: Huemer
authors.forename: Anders
authors.initials: A
authors.lastname: Oldfors
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Sperl
mesh_terms: D001921:Brain / Q000473:pathology; D002648:Child; D004252:DNA Mutational Analysis; D017079:Exercise Tolerance / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D018698:Glutamic Acid / Q000378:metabolism; D006801:Humans; D028361:Mitochondrial Diseases / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D017240:Mitochondrial Myopathies / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D018485:Muscle Fibers, Skeletal / Q000378:metabolism / Q000473:pathology; D018908:Muscle Weakness / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000378:metabolism* / Q000473:pathology / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D012313:RNA / Q000235:genetics*; D000077278:RNA, Mitochondrial; D012343:RNA, Transfer / Q000235:genetics*
chemical_list: D000077278:RNA, Mitochondrial; D018698:Glutamic Acid; D012313:RNA; D012343:RNA, Transfer