title: Mitochondrial myopathy and respiratory failure associated with a new mutation in the mitochondrial transfer ribonucleic acid glutamic acid gene.
abstract: We report a novel T14687C mutation in the mitochondrial transfer ribonucleic acid glutamic acid gene in a 16-year-old boy with myopathy and lactic acidosis, retinopathy, and progressive respiratory failure leading to death. A muscle biopsy showed cytochrome c oxidase-negative ragged-red fibers, and biochemical analysis of the respiratory chain enzymes in muscle homogenate revealed complex I and complex IV deficiencies. The mutation, which affects the trinucleotide (TpsiC) loop, was nearly homoplasmic in the muscle DNA of the proband, but it was absent in his blood and in the blood from the asymptomatic mother, suggesting that it may have been a spontaneous somatic mutation in muscle.
authors.affiliation: Department of Pediatrics, University of Genova, Italy. claudiobruno@ospedale-gaslini.ge.it
authors.forename: Claudio
authors.initials: C
authors.lastname: Bruno
authors.forename: Oliviero
authors.initials: O
authors.lastname: Sacco
authors.forename: Filippo M
authors.initials: FM
authors.lastname: Santorelli
authors.forename: Stefania
authors.initials: S
authors.lastname: Assereto
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Tonoli
authors.forename: Massimo
authors.initials: M
authors.lastname: Bado
authors.forename: Giovanni A
authors.initials: GA
authors.lastname: Rossi
authors.forename: Carlo
authors.initials: C
authors.lastname: Minetti
mesh_terms: D000293:Adolescent; D006801:Humans; D008297:Male; D008928:Mitochondria / Q000235:genetics* / Q000473:pathology; D017240:Mitochondrial Myopathies / Q000235:genetics* / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D012346:RNA, Transfer, Amino Acyl / Q000235:genetics*; D012131:Respiratory Insufficiency / Q000235:genetics* / Q000473:pathology
chemical_list: D012346:RNA, Transfer, Amino Acyl