title: SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency.
abstract: Leigh syndrome (LS) is one of the most frequent forms of mitochondrial disease in infancy and childhood. Mutations in SURF1 have been shown to be an important cause of LS with cytochrome c oxidase (COX) deficiency. The authors have identified four pathogenic mutations including a novel, in-frame, 15-bp tandem duplication (806-820) in exon 8 and a novel 751+1G>A splice site mutation in SURF1 in three cases of LS with COX deficiency.
authors.affiliation: Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden. ali-reza.moslemi@path.gu.se
authors.forename: A-R
authors.initials: AR
authors.lastname: Moslemi
authors.forename: M
authors.initials: M
authors.lastname: Tulinius
authors.forename: N
authors.initials: N
authors.lastname: Darin
authors.forename: P
authors.initials: P
authors.lastname: Aman
authors.forename: E
authors.initials: E
authors.lastname: Holme
authors.forename: A
authors.initials: A
authors.lastname: Oldfors
mesh_terms: D015153:Blotting, Western; D001921:Brain / Q000473:pathology; D002478:Cells, Cultured; D002648:Child; D002675:Child, Preschool; D030401:Cytochrome-c Oxidase Deficiency / Q000150:complications / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007888:Leigh Disease / Q000150:complications / Q000201:enzymology* / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D009154:Mutation; D011506:Proteins / Q000032:analysis / Q000235:genetics*; D014162:Transfection
chemical_list: D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D011506:Proteins; C092928:Surf-1 protein