Exercise intolerance resulting from a muscle-restricted mutation in the mitochondrial tRNALeu (CUN) gene

Annals of Medicine

Volumn 33, Issue 7, 2001, Pages 493-496

  Vives Bauza, C ^a   Gamez, J ^a   Roig, M ^a   Briones, P ^a   Cervera, C ^a   Solano, A ^a   Montoya, J ^a   Andreu, A L ^a  

^a HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

Author keywords

Exercise intolerance; mtDNA; Mutation, tRNA

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; MITOCHONDRIAL RNA; TRANSFER RNA; UBIQUINOL CYTOCHROME C REDUCTASE;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; DNA SEQUENCE; ENZYME DEFICIENCY; EXERCISE; FEMALE; GENE MUTATION; HISTOCHEMISTRY; HUMAN; HUMAN TISSUE; MUSCLE BIOPSY; MYOPATHY; PRIORITY JOURNAL; RESPIRATORY CHAIN; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RNA GENE; SKELETAL MUSCLE;

EID: 0034791307     PISSN: 07853890     EISSN: None     Source Type: Journal    
DOI: 10.3109/07853890109002099     Document Type: Article

References (10)

1. Mitochondrial encephalomyophaties
2. Exercise intolerance due to a mutations in the cytochrome b gene of mitochondrial DNA
3. Cytochemistry and immunocytochemistry of mitochondria in tissue sections
4. Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. A potential disease mechanism
5. Leu (CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy
6. Point mutations in mitochondrial tRNA genes: Sequence analysis of chronic progressive ophthalmoplegia (CPEO)
7. Leu (CNU) in non-lymphoid haemopoietic cell lineages from a patient with acquired idiopathic sideroblastic anaemia
8. A new mtDNA point mutation showing accumulation with time and restriction to skeletal muscle
9. The mitochondrial DNA mutation T12297C affects a highly conserved nucleotide of tRNA Leu(CUN) and is associated with dilated cardiomypathy
10. Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene