title: Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation.
abstract: Mutations of the BCS1L gene are a recognised cause of isolated respiratory chain complex III deficiency and underlie several fatal, neonatal mitochondrial diseases. Here we describe a 20-year-old Kenyan woman who initially presented as a floppy infant but whose condition progressed during childhood and adolescence with increasing muscle weakness, focal motor seizures and optic atrophy. Muscle biopsy demonstrated complex III deficiency and the pathogenicity of a novel, homozygous BCS1L mutation was confirmed by yeast complementation studies. Our data indicate that BCS1L mutations can cause a variable, neurological course which is not always fatal in childhood.
authors.affiliation: Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle Upon Tyne NE2 4HH, UK.
authors.forename: Helen A L
authors.initials: HA
authors.lastname: Tuppen
authors.forename: Janev
authors.initials: J
authors.lastname: Fehmi
authors.forename: Birgit
authors.initials: B
authors.lastname: Czermin
authors.forename: Paola
authors.initials: P
authors.lastname: Goffrini
authors.forename: Francesca
authors.initials: F
authors.lastname: Meloni
authors.forename: Iliana
authors.initials: I
authors.lastname: Ferrero
authors.forename: Langping
authors.initials: L
authors.lastname: He
authors.forename: Emma L
authors.initials: EL
authors.lastname: Blakely
authors.forename: Robert
authors.initials: R
authors.lastname: McFarland
authors.forename: Rita
authors.initials: R
authors.lastname: Horvath
authors.forename: Douglass M
authors.initials: DM
authors.lastname: Turnbull
authors.forename: Robert W
authors.initials: RW
authors.lastname: Taylor
mesh_terms: D000074183:ATPases Associated with Diverse Cellular Activities; D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis; D014450:Electron Transport Complex III / Q000737:chemistry / Q000172:deficiency* / Q000235:genetics*; D005260:Female; D005816:Genetic Complementation Test; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008928:Mitochondria / Q000201:enzymology* / Q000235:genetics*; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D011247:Pregnancy; D012441:Saccharomyces cerevisiae; D013347:Subcellular Fractions / Q000201:enzymology; D016019:Survival Analysis; D013997:Time Factors; D055815:Young Adult
chemical_list: C435491:BCS1L protein, human; D000074183:ATPases Associated with Diverse Cellular Activities; D014450:Electron Transport Complex III