Mitochondrial Complex III Deficiency Associated with a Homozygous Mutation in UQCRQ

American Journal of Human Genetics

Volumn 82, Issue 5, 2008, Pages 1211-1216

  Barel, Ortal ^a   Shorer, Zamir ^b   Flusser, Hagit ^b   Ofir, Rivka ^a   Narkis, Ginat ^a   Finer, Gal ^a   Shalev, Hanah ^b   Nasasra, Ahmad ^b   Saada, Ann ^c   Birk, Ohad S ^a,b  

^a BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^b BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^c HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

LACTIC ACID; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); UBIQUINOL CYTOCHROME C REDUCTASE;

ARAB; ARTICLE; ATAXIA; ATHETOSIS; AUTOSOMAL RECESSIVE INHERITANCE; BCSIL GENE; CAUDATE NUCLEUS; CHILD; CHROMOSOME 5Q31; CLINICAL ARTICLE; COMMUNICATION DISORDER; COMPLEX III DEFICIENCY; CONSANGUINEOUS MARRIAGE; DEMENTIA; DYSTONIA; ENZYME ACTIVITY; EXTRAPYRAMIDAL SYMPTOM; GENE; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; GENETIC LINKAGE; HOMOZYGOSITY; HUMAN; HUMAN CHROMOSOME; HUMAN GENOME; HUMAN TISSUE; LACTATE BLOOD LEVEL; METABOLISM; MISSENSE MUTATION; MITOCHONDRION; MUSCLE BIOPSY; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; PUTAMEN; SPEECH DISORDER; UQCRQ GENE;

CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 5; CONSANGUINITY; ELECTRON TRANSPORT COMPLEX III; GENOME, HUMAN; HAPLOTYPES; HOMOZYGOTE; HUMANS; LINKAGE (GENETICS); MENTAL RETARDATION; MUTATION; PEDIGREE;

EID: 42749083327     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2008.03.020     Document Type: Article

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