The Expanding Mutational Spectrum of MERRF Substitution G8361A in the Mitochondrial tRNALys Gene

Annals of Neurology

Volumn 54, Issue 6, 2003, Pages 820-823

  Rossmanith, Walter ^a   Raffelsberger, Thomas ^a   Roka, Julia ^a   Kornek, Barbara ^a   Feucht, Martha ^a   Bittner, Reginald E ^a  

^a MEDICAL UNIVERSITY OF VIENNA   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL RNA; TRANSFER RNA;

ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; ENCEPHALOMYOPATHY; EXTRACHROMOSOMAL INHERITANCE; GENE MUTATION; HUMAN; MALE; MUSCLE CELL; MYOCLONUS EPILEPSY; PATHOGENESIS; PRESCHOOL CHILD; PRIORITY JOURNAL;

AMINO ACID SUBSTITUTION; BASE SEQUENCE; CHILD; DNA MUTATIONAL ANALYSIS; HUMANS; MALE; MERRF SYNDROME; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUTATION; RNA; RNA, TRANSFER, LYS;

EID: 0344233098     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.10753     Document Type: Article

References (20)

1. Howell N. Human mitochondrial diseases: answering questions and questioning answers. Int Rev Cytol 1999;186:49-116.
2. Fukuhara N, Tokiguchi S, Shirakawa K, Tsubaki T. Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities): disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature. J Neurol Sci 1980;47:117-133.
3. DiMauro S, Hirano M, Kaufmann P, et al. Clinical features and genetics of myoclonic epilepsy with ragged red fibers. Adv Neurol 2002;89:217-229.
4. Lys mutation. Cell 1990;61:931-937.
5. Fischer JC, Ruitenbeek W, Stadhouders AM, et al. Investigation of mitochondrial metabolism in small human skeletal muscle biopsy specimens. Improvement of preparation procedure. Clin Chim Acta 1985;145:89-99.
6. Fischer JC, Ruitenbeek W, Berden JA, et al. Differential investigation of the capacity of succinate oxidation in human skeletal muscle. Clin Chim Acta 1985;153:23-36.
7. Fischer JC, Ruitenbeek W, Trijbels JM, et al. Estimation of NADH oxidation in human skeletal muscle mitochondria. Clin Chim Acta 1986;155:263-273.
8. Sambrook J, Russell DW. Molecular cloning: a laboratory manual. 3rd ed. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press, 2001
9. Anderson S, Bankier AT, Barrell BG, et al. Sequence and organization of the human mitochondrial genome. Nature 1981;290:457-465.
10. Tys gene. Neurology 2001;57:2298-2301.
11. MITOMAP: a Human Mitochondrial Genome Database. Available at: http://www.mitomap.org. Accessed July 2003.
12. mtDB Human Mitochondrial Genome Database. Available at: http://www.genpat.uu.se/mtDB. Accessed July 2003.
13. Herrnstadt C, Preston G, Howell N. Errors, phantoms and otherwise, in human mtDNA sequences. Am J Hum Genet 2003;72:1585-1586.
14. Poulton J, Turnbull DM. 74th ENMC international workshop: mitochondrial diseases 19-20 November 1999, Naarden, The Netherlands. Neuromuscul Disord 2000;10:460-462.
15. Lys gene: two genotypes produce similar phenotypes. Mol Cell Biol 1995;15:2872-2881.
16. Börner GV, Zeviani M, Tiranti V, et al. Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients. Hum Mol Genet 2000;9:467-475.
17. Yasukawa T, Suzuki T, Ishii N, et al. Wobble modification defect in tRNA disturbs codon-anticodon interaction in a mitochondrial disease. EMBO J 2001;20:4794-4802.
18. Lys mutation in mitochondrial DNA in MERRF patients. Neurology 1993;43:1198-1200.
19. Silvestri G, Ciafaloni E, Santorelli FM, et al. Clinical features associated with the A→G transition at nucleotide 8344 of mtDNA ("MERRF mutation"). Neurology 1993;43:1200-1206.
20. Lys mutation in individual neuronal isolates. J Neurosci 1997;17:7746-7753.