title: A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency.
abstract: We report on a 5-year-old boy with clinical and neuroradiological evidence of Leigh syndrome and peripheral neuropathy. Skeletal muscle biopsy showed decreased cytochrome c oxidase stain. Ultrastructurally, the nerve biopsy showed a defect of myelination. Biochemical analyses of muscle homogenate showed cytochrome c oxidase deficiency (15% residual activity). SURF1 gene analysis identified a novel homozygous nonsense mutation which predicts a truncated surf1 protein.
authors.affiliation: Department of Neurophysiopathology, Federico II University, Napoli, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Santoro
authors.forename: R
authors.initials: R
authors.lastname: Carrozzo
authors.forename: A
authors.initials: A
authors.lastname: Malandrini
authors.forename: F
authors.initials: F
authors.lastname: Piemonte
authors.forename: C
authors.initials: C
authors.lastname: Patrono
authors.forename: M
authors.initials: M
authors.lastname: Villanova
authors.forename: A
authors.initials: A
authors.lastname: Tessa
authors.forename: S
authors.initials: S
authors.lastname: Palmeri
authors.forename: E
authors.initials: E
authors.lastname: Bertini
authors.forename: F M
authors.initials: FM
authors.lastname: Santorelli
mesh_terms: D001706:Biopsy; D030401:Cytochrome-c Oxidase Deficiency; D003576:Electron Transport Complex IV / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007888:Leigh Disease / Q000235:genetics* / Q000473:pathology*; D008297:Male; D008565:Membrane Proteins; D008928:Mitochondria / Q000473:pathology; D024101:Mitochondrial Proteins; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology; D010523:Peripheral Nervous System Diseases / Q000201:enzymology / Q000209:etiology / Q000473:pathology*; D017354:Point Mutation; D011506:Proteins / Q000235:genetics*; D013497:Sural Nerve / Q000473:pathology
chemical_list: D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D011506:Proteins; C092928:Surf-1 protein; D003576:Electron Transport Complex IV