Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation

Molecular Genetics and Metabolism

Volumn 100, Issue 4, 2010, Pages 345-348

  Tuppen, Helen A L ^a   Fehmi, Janev ^a   Czermin, Birgit ^b   Goffrini, Paola ^c   Meloni, Francesca ^c   Ferrero, Iliana ^c   He, Langping ^a   Blakely, Emma L ^a   McFarland, Robert ^a   Horvath, Rita ^a   Turnbull, Douglass M ^a   Taylor, Robert W ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b Medizinisch Genetisches Zentrum München MGZ   (Germany)

^c UNIVERSITY OF PARMA   (Italy)

Author keywords

BCS1L mutation; Complex assembly; Complex III; Mitochondrial disease; Yeast complementation studies

Indexed keywords

ANTICONVULSIVE AGENT; BCS1 PROTEIN; GENOMIC DNA; MITOCHONDRIAL PROTEIN; UBIQUINOL CYTOCHROME C REDUCTASE; UNCLASSIFIED DRUG; BCS1L PROTEIN, HUMAN;

ADULT; ANTICONVULSANT THERAPY; ARTICLE; CASE REPORT; CLINICAL ASSESSMENT; CLINICAL EXAMINATION; CLINICAL FEATURE; COMPLEX III DEFICIENCY; CONSANGUINEOUS MARRIAGE; CONTROL GROUP; DISEASE COURSE; DISEASE SEVERITY; DNA EXTRACTION; ELECTROCARDIOGRAM; ELECTROENCEPHALOGRAM; ENZYME ACTIVITY; EXON; FEMALE; GENE MUTATION; GENETIC VARIABILITY; GENOME; HISTOLOGY; HOMOZYGOTE; HUMAN; IMMUNOHISTOCHEMISTRY; INFANTILE HYPOTONIA; INTRON; KENYA; MEDICAL HISTORY; MIGRAINE; MUSCLE BIOPSY; MUSCLE WEAKNESS; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; OPTIC NERVE ATROPHY; PATHOGENICITY; PRIORITY JOURNAL; RESPIRATORY CHAIN, OXIDATIVE PHOSPHORYLATION AND CELLULAR ENERGETICS; SEIZURE; SURVIVAL TIME; VISUAL ACUITY; VISUAL IMPAIRMENT; AMINO ACID SEQUENCE; CELL FRACTIONATION; CHEMISTRY; CHILD; DEFICIENCY; ENZYMOLOGY; GENETIC COMPLEMENTATION; GENETICS; INFANT; MITOCHONDRION; MOLECULAR GENETICS; MUTATION; NEWBORN; PATHOLOGY; PREGNANCY; SACCHAROMYCES CEREVISIAE; SKELETAL MUSCLE; SURVIVAL; TIME; YOUNG ADULT;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; DNA MUTATIONAL ANALYSIS; ELECTRON TRANSPORT COMPLEX III; FEMALE; GENETIC COMPLEMENTATION TEST; HUMANS; INFANT; INFANT, NEWBORN; MITOCHONDRIA; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUTATION; PREGNANCY; SACCHAROMYCES CEREVISIAE; SUBCELLULAR FRACTIONS; SURVIVAL ANALYSIS; TIME FACTORS; YOUNG ADULT;

EID: 77954659697     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.04.010     Document Type: Article

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