Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene

American Journal of Human Genetics

Volumn 67, Issue 6, 2000, Pages 1400-1410

  Keightley, J Andrew ^a,b   Anitori, Roberto ^a,c   Burton, Miriam D ^a,d   Quan, Franklin ^a,e   Buist, Neil R M ^a   Kennaway, Nancy G ^a,b  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b LERNER RESEARCH INSTITUTE   (United States)

^c MACQUARIE UNIVERSITY   (Australia)

^d CENTRAL INSTITUTE FOR THE DEAF   (United States)

^e UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME B; UBIQUINOL CYTOCHROME C REDUCTASE;

ADULT; ARTICLE; DIAGNOSTIC VALUE; ENCEPHALOMYOPATHY; ENZYME DEFICIENCY; EXERCISE TOLERANCE; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOCYTOCHEMISTRY; LACTIC ACIDOSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RESPIRATORY CHAIN; STOP CODON;

EID: 0033659683     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/316900     Document Type: Article

References (44)

1. Sequence and organization of the human mitochondrial genome
2. A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria
3. Polymorphic variants in the human mitochondrial cytochrome b gene
4. Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy
5. A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy
6. Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA
7. 31P-NMR follow-up study
8. Intracellular mitochondrial triplasmy in a patient with two heteroplasmic base changes
9. Isolation of DNA from forensic evidence
10. Clinical mitochondrial genetics
11. Mitochondrial DNA and disease
12. An mtDNA mutation in the initiation codon of the cytochrome c oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy
13. Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease
14. Deficiency in ubiquinone cytochrome c reductase in a patient with mitochondrial myopathy and lactic acidosis
15. Mitochondrial myopathy: Tissue-specific expression of a defect in ubiquinolcytochrome c reductase
16. A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome
17. Mitochondrial encephalomyopathies
18. Mitochondria in neuromuscular disorders
19. A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance
20. Different cellular backgrounds confer a marked advantage to either mutant or wild-type mitochondrial genomes
21. 31P NMR study of improvement in oxidative phosphorylation by vitamins K3 and C in a patient with a defect in electron transport at complex III in skeletal muscle
22. Metabolic myopathies: Evaluation by graded exercise testing
23. A novel heteroplasmic tRNA(leu(CUN)) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy
24. Muscle pain, fatigue, and mitochondriopathies
25. Techniques for transformation of E coli
26. Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus
27. 1 complex
28. A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria
29. Lactic acidosis and mitochondrial myopathy associated with deficiency of several components of complex III of the respiratory chain
30. Mitochondrial encephalomyopathy associated with a nonsense mutation in cytochrome b
31. Human cells lacking mtDNA: Repopulation with exogenous mitochondria by complementation
32. Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome
33. Clinical and molecular diversity of respiratory chain complex III defects
34. Clinical heterogeneity in respiratory chain complex III deficiency in childhood
35. A novel heteroplasmic nonsense mutation in the mitochondrial cytochrome b gene associated with mitochondrial myopathy and complex III deficiency
36. 1
37. Subunit specific monoclonal antibodies show different steady-state levels of various cytochrome-c oxidase subunits in chronic progressive external ophthalmoplegia
38. A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency
39. A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency
40. Mitochondrial diseases in man and mouse
41. A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle
42. Alternative, noninvasive tissues for quantitative screening of mutant mitochondrial DNA
43. Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy