A late-onset mitochondrial myopathy is associated with a novel mitochondrial DNA (mtDNA) point mutation in the tRNA(Trp) gene

Neuromuscular Disorders

Volumn 8, Issue 5, 1998, Pages 291-295

  Silvestri, G ^a   Rana, M ^a   DiMuzio, A ^b   Uncini, A ^b   Tonali, P ^a   Servidei, S ^a  

^a CATHOLIC UNIVERSITY   (Italy)

^b UNIVERSITY OF CHIETI   (Italy)

Author keywords

Late onset mitochondrial myopathy; Point mutation; tRNA(Trp) gene

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; PROTEIN SUBUNIT; TRANSFER RNA; TRYPTOPHAN;

AGED; ARTICLE; CASE REPORT; GENETIC ASSOCIATION; HUMAN; HUMAN TISSUE; LEUKOCYTE; MALE; MITOCHONDRIAL MYOPATHY; MORPHOLOGY; MUSCLE CELL; ONSET AGE; PATHOGENICITY; POINT MUTATION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RNA GENE;

AGED; DNA, MITOCHONDRIAL; ELECTROMYOGRAPHY; ELECTRON TRANSPORT COMPLEX IV; HUMANS; MALE; MITOCHONDRIAL MYOPATHIES; MUSCLE, SKELETAL; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; RNA, TRANSFER, TRP;

EID: 0031925719     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(98)00037-6     Document Type: Article

References (13)

1. Ile gene is associated with progressive external ophthalmoplegia. Biochem Biophys Res Commun. 220:1996;623-627.
2. Moraes C.T., Schon E.A. Detection and analysis of mitochondrial DNA and RNA in muscle by in situ hybridization and single-fiber PCR. Methods Enzymol. 264:1996;522-540.
3. Anderson S., Bankier A.T., Barrel B.G.et al. Sequence and organization of human mitochondrial genome. Nature. 290:1981;457-465.
4. Nelson I., Hanna M.G., Alsanjari N., Scaravilli F., Morgan Hughes J.A., Harding A.E. A new mitochondrial DNA mutation associated with progressive dementia and chorea: a clinical pathological, and molecular genetic study. Ann Neurol. 37:1995;400-403.
5. Lombes A., Mendell J.R., Nakase H.et al. Myoclonic epilepsy and ragged red fibers with cytochrome oxidase deficiency: neuropathology, biochemistry and molecular genetics. Ann Neurol. 26:1989;20-29.
6. Silvestri G., Ciafaloni E., Santorelli F.M.et al. Clinical features associated with the A→G transition at nucleotide 8344 of mtDNA ('MERRF mutation'). Neurology. 43:1993;1200-1206.
7. Hanna M.G., Nelson I.P., Morgan-Hughes J.A.et al. Impaired mitochondrial translation in human myoblasts harbouring the mitochondrial DNA tRNA lysine 8344 A→G (MERRF) mutation: relationship to proportion of mutant mitochondrial DNA. J Neurol Sci. 130:1995;154-160.
8. Trp gene. Ann Neurol. 42:1997;256-260.
9. Johnston W., Karpati G., Carpenter S., Arnold D., Shoubridge E.A. Late onset mitochondrial myopathy. Ann Neurol. 37:1995;16-23.
10. Moraes C.T., Ciacci F., Silvestri G.et al. Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA. Neuromusc Disord. 3:1992;43-50.
11. Weber K., Wilson J.N., Taylor L.et al. A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle. Am J Hum Genet. 60:1997;373-380.
12. Dumoulin R., Sagnol I., Ferlin T., Bozon D., Stepien G., Mousson B. A novel Gly290Asp mitochondrial cytochrome b mutation linked to complex III deficiency in progressive exercise intolerance. Mol Cell Probes. 10:1996;389-391.
13. leu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggest an approach to therapy. Hum Mol Genet. 5:1996;1835-1840.