Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNASer(UCN) gene

Neuromuscular Disorders

Volumn 14, Issue 7, 2004, Pages 417-420

  Bidooki, Seyed ^a   Jackson, Margaret J ^a   Johnson, Margaret A ^a   Chrzanowska Lightowlers, Zofia M A ^a   Taylor, Robert W ^a   Venables, Graham ^b   Lightowlers, Robert N ^a   Turnbull, Douglass M ^a   Bindoff, Laurence A ^c  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b SHEFFIELD TEACHING HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^c UNIVERSITY OF BERGEN   (Norway)

Author keywords

Mitochondrial myopathy; mtDNA; tRNA Serine

Indexed keywords

CYTOCHROME C OXIDASE; SERINE; TRANSFER RNA;

ADULT; ANTICODON; ARTICLE; ATAXIA; BLOOD; CASE REPORT; CLINICAL FEATURE; DEMENTIA; DISEASE COURSE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HEARING IMPAIRMENT; HETEROPLASMY; HISTOLOGY; HUMAN; MITOCHONDRIAL GENETICS; MITOCHONDRIAL MYOPATHY; MITOCHONDRIAL RESPIRATION; MUSCLE BIOPSY; MUSCLE WEAKNESS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; SKELETAL MUSCLE;

ADULT; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; LONGITUDINAL STUDIES; MITOCHONDRIAL MYOPATHIES; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUTATION; POLYMERASE CHAIN REACTION; RNA; RNA, TRANSFER, SER;

EID: 2942740936     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2004.03.004     Document Type: Article

References (18)

1. DiMauro S., Schon E.A. Mitochondrial respiratory-chain diseases. N Engl J Med. 348:2003;2656-2668
2. Servidei S. Mitochondrial encephalomyopathies: gene mutation. Neuromuscul Disord. 14:2004;107-116
3. MITOMAP: A human mitochondrial genome database: http://www.mitomap.org, 2003.
4. Johnson M.A., Bindoff L.A., Turnbull D.M. Cytochrome c oxidase activity in single muscle fibres: assay techniques and diagnostic applications. Ann Neurol. 33:1993;28-35
5. Bindoff L.A., Desnuelle C., Birch-Machin M.A., et al. Multiple defects of the mitochondrial respiratory chain in a mitochondrial encephalopathy (MERRF): a clinical, biochemical and molecular study. J Neurol Sci. 102:1991;17-24
6. Bidooki S.K., Johnson M.A., Chrzanowska-Lightowlers Z., et al. Intracellular mitochondrial triplasmy in a patient with two heteroplasmic base changes. Am J Hum Genet. 60:1997;1430-1438
7. 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
8. Anderson S., Bankier A.T., Barrell B.G., et al. Sequence and organization of the human mitochondrial genome. Nature. 290:1981;457-465
9. Andrews R.M., Kubacka I., Chinnery P.F., et al. Reanalysis and revision of the cambridge reference sequence. Nat Genet. 23:1999;147
10. Zuker M. Mfold web server for nucleic acid folding and hybridization prediction. Nucl Acids Res. 31:2003;3406-3415
11. Yarus M. Translational efficiency of transfer RNA's: uses of an extended anticodon. Science. 218:1982;646-652
12. Reid F.M., Vernham G.A., Jacobs H.T. A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. Human Mutat. 3:1994;243-247
13. Hutchin T.P., Parker M.J., Young I.D., et al. A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment. J Med Genet. 37:2000;692-694
14. Sue C.M., Tanji K., Hadjigeorgiou G., et al. Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene. Neurology. 52:1999;1905-1908
15. Nakamura M., Nakano S., Goto Y., et al. A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome. Biochem Biophys Res Commun. 214:1995;86-93
16. Tiranti V., Chariot P., Carella F., et al. Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene. Hum Mol Genet. 4:1995;1421-1427
17. Jaksch M., Hofmann S., Kleinle S., et al. A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy. J Med Genet. 35:1998;895-900
18. Grafakou O., Hol F.A., Otfried Schwab K., et al. Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNASer(UCN) gene. J Inherit Metab Dis. 26:2003;593-600