A novel mutation in the mitochondrial tRNA(Tyr) gene associated witn exercise intolerance

Neurology

Volumn 55, Issue 8, 2000, Pages 1210-1212

  Pulkes, T ^a   Siddiqui, A ^a   Morgan Hughes, J A ^a   Hanna, M G ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME B; TRANSFER RNA; UBIQUINOL CYTOCHROME C REDUCTASE;

ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; ENZYME DEFICIENCY; EXERCISE TOLERANCE; FEMALE; GENE; GENETIC DISORDER; HUMAN; MITOCHONDRIAL MYOPATHY; POINT MUTATION; PRIORITY JOURNAL;

EID: 0034711156     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.55.8.1210     Document Type: Article

References (10)

1. The clinical features of mitochondrial myopathy
2. A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance
3. Exercise intolerance associated with mutations in the cytochrome b gene of mitochondrial DNA
4. 1 complex (complex III) of the respiratory chain
5. Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA
6. Sequence and organisation of the human mitochondrial genome
7. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
8. Population variation of human mtDNA control region sequences detected by enzymatic amplification and sequence-specific oligonucleotide probes
9. 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
10. Reversal of a mitochondrial DNA defect in human skeletal muscle