Mitochondrial encephalomyopathy with 15915 mutation: Clinical report

Pediatric Neurology

Volumn 17, Issue 2, 1997, Pages 161-164

  Seki, Ayumi ^b   Nishino, Ichizo ^a   Goto, Yu Ichi ^a   Maegaki, Yoshihiro ^c   Koeda, Tatsuya ^c  

^a NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^b TOTTORI UNIVERSITY   (Japan)

^c NONE

Author keywords

[No Author keywords available]

Indexed keywords

IDEBENONE;

ADOLESCENT; ARTICLE; BRAIN ATROPHY; CASE REPORT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; ELECTROENCEPHALOGRAPHY; ENCEPHALOMYOPATHY; GENE MUTATION; HUMAN; MALE; MUSCLE WEAKNESS; MYOCLONUS; POINT MUTATION; PRIORITY JOURNAL; SEIZURE; SHORT STATURE;

ADOLESCENT; BENZOQUINONES; BRAIN; DNA, MITOCHONDRIAL; ELECTROENCEPHALOGRAPHY; HUMANS; MALE; MITOCHONDRIAL ENCEPHALOMYOPATHIES; NEUROLOGIC EXAMINATION; POINT MUTATION; RNA, TRANSFER, THR; SEQUENCE ANALYSIS; UBIQUINONE;

EID: 0030693171     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0887-8994(97)00080-5     Document Type: Article

References (16)

1. Sarvidei S. Mitochondrial enchephalopathies: Gene mutation. Neuromuscul Disord 1996;6:11-14.
2. Goto Y, Nonaka I, Horai S. A mutation in the tRNA-Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990;348:651-3.
3. Goto Y, Nonaka I, Horai S. A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Biochim Biophys Acta 1991;1097:238-40.
4. Goto Y, Tsugane K, Tanabe Y, Nonaka I, Horai S. A new point mutation at nucleotide pair 3291 of the mitochondrial tRNA-Leu (UUR) gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Biochem Biophys Res Commun 1994;202:1624-30.
5. Shoffner JM, Lott MT, Lezza AMS, Seibel P, Ballinger SW, Wallace DC. Myoclonic epilepsy and ragged-red fiber disease (MEERF) is associated with a mitochondrial DNA tRNA-Lys mutation. Cell 1990;61:931-7.
6. Silvestri G, Moraes CT, Shanske S, Oh SJ, DiMauro S. A new mtDNA mutation in the tRNA-Lys gene associated with myoclonic epilepsy and ragged-red fibers (MERRF). Am J Hum Genet 1992;51:1213-7.
7. Zeviani M, Muntoni F, Savarese N, Serra G, Tiranti V, Carrara F, Mariotti C, DiDonato S. A MERRF/MELAS overlap syndorome associated with a new point mutation in the mitochondrial DNA tRNA-Lys gene. Eur J Hum Genet 1993;1:80-7.
8. Ozawa M, Nishino I, Watanabe A, Yamamoto H, Fujimoto M, Horai S, Nonaka I, Goto Y. A novel point mutation in mitochondrial lysine tRNA in two Japanese families with myoclonic epilepsy and ragged-red fibers disease (MERRF). Am J Hum Genet 1995;57(suppl):A223.
9. Nishino I, Seki A, Maegaki Y, Takeshita K, Horai S, Nonaka I, Goto Y. A novel mutation in the mitochondrial tRNA-Thr gene associated with a mitochondrial encephlomyopathy. Biochem Biophys Res Commun 1996;225:180-5.
10. Shibasaki H. AAEE Minimonograph #30: Electrophysiologic studies of myoclonus. Muscle Nerve 1988;II:899-907.
11. Koeda T, Knyazeva M, Njiokiktjien C, Jonkman EJ, Sonneville LD, Vildavsky V. The EEG in acallosal children. Coherence values in the resting state: Left hemisphere compensatory mechanism? Electroencephalogr Clin Neurophysiol 1995;95:397-407.
12. Yoon KL, Aprille JR, Ernst SG. Mitochondrial tRNA-Thr mutation in fatal infantile respiratory enzyme deficiency. Biochem Biophys Res Commun 1991;176:1112-5.
13. Matthews PM, Ford B, Dandurand RJ, Eidelman DH, O'Connor D, Sherwin A, Karpati G, Andermann F, Arnold DL. Coenzyme Q10 with multiple vitamins is generally ineffective in treatment of mitochondrial disease. Neurology 1993;43:884-90.
14. Bresolin N, Doriguzzi C, Ponzetto C, Angelini C, Moroni I, Castelli E, Binda A, Gallanti A, Gabellini S, Piccolo G, et al. Ubidecarenone in the treatment of mitochondrial myopathies: A multi-center double-blind trial. J Neurol Sci 1990;100:70-8.
15. Ikejiri Y, Mori E, Ishii K, Nishimoto K, Yasuda M, Sasaki M. Idebenone improves mitochondrial oxidative metabolism in a patient with MELAS. Neurology 1996;47:583-5.
16. Nishikawa Y, Takahashi M, Yorifuji S, Nakamura Y, Ueno S, Tarui S, Kozuka T, Nishimura T. Long-term coenzytne Q10 therapy for a mitochondrial encephalomyopathy with cytochrome C oxidase deficiency: A P31 NMR study. Neurology 1989;39:399-403.