A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III

Neuromuscular Disorders

Volumn 12, Issue 1, 2002, Pages 49-52

  Lamantea, Eleonora ^a   Carrara, Franco ^a   Mariotti, Caterina ^a   Morandi, Lucia ^a   Tiranti, Valeria ^a   Zeviani, Massimo ^a  

^a National Neurological Institute   (Italy)

Author keywords

Cytochrome b; mtDNA mutation; Myopathy; Respiratory chain complexes

Indexed keywords

CYTOCHROME B; MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); UBIQUINOL CYTOCHROME C REDUCTASE;

ADULT; AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE ASSOCIATION; DISEASE COURSE; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXERCISE; FEMALE; GENOME; HUMAN; HUMAN TISSUE; LACTIC ACIDOSIS; MITOCHONDRIAL MYOPATHY; MITOCHONDRION; MUSCLE BIOPSY; MUSCLE CRAMP; NONSENSE MUTATION; PRIORITY JOURNAL; PROTEIN ANALYSIS; REDUCTION; RESPIRATORY CHAIN; STOP CODON;

ADULT; CODON, NONSENSE; CYTOCHROME B GROUP; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT; ELECTRON TRANSPORT COMPLEX I; ELECTRON TRANSPORT COMPLEX III; FEMALE; HUMANS; MITOCHONDRIA; MUSCLE, SKELETAL; MUSCULAR DISEASES; NADH, NADPH OXIDOREDUCTASES;

EID: 0036132671     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(01)00244-9     Document Type: Article

References (10)

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4. Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA
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7. Mitochondrial encephalomyopathy and complex III deficiency associated with stop-codon mutation in the cytochrome b gene
8. A missense mutation in the mitochondrial cytochrome b gene in a revised case with histiocytoid cardiomyopathy
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10. Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene