Detection of the A to G(3243) mutation of mitochondrial DNA in Japanese families with mitochondrial encephalomyopathies
K. Inui
Department of Pediatrics, Osaka University Medical School, Osaka, 553 Japan
Search for more papers by this authorH. Tsukamoto
Department of Pediatrics, Osaka University Medical School, Osaka, 553 Japan
Search for more papers by this authorH. Fukushima
Department of Pediatrics, Osaka University Medical School, Osaka, 553 Japan
Search for more papers by this authorM. Taniike
Department of Pediatrics, Osaka University Medical School, Osaka, 553 Japan
Search for more papers by this authorJ. Tanaka
Department of Pediatrics, Osaka University Medical School, Osaka, 553 Japan
Search for more papers by this authorT. Nishigaki
Department of Pediatrics, Osaka University Medical School, Osaka, 553 Japan
Search for more papers by this authorS. Okada
Department of Pediatrics, Osaka University Medical School, Osaka, 553 Japan
Search for more papers by this authorK. Inui
Department of Pediatrics, Osaka University Medical School, Osaka, 553 Japan
Search for more papers by this authorH. Tsukamoto
Department of Pediatrics, Osaka University Medical School, Osaka, 553 Japan
Search for more papers by this authorH. Fukushima
Department of Pediatrics, Osaka University Medical School, Osaka, 553 Japan
Search for more papers by this authorM. Taniike
Department of Pediatrics, Osaka University Medical School, Osaka, 553 Japan
Search for more papers by this authorJ. Tanaka
Department of Pediatrics, Osaka University Medical School, Osaka, 553 Japan
Search for more papers by this authorT. Nishigaki
Department of Pediatrics, Osaka University Medical School, Osaka, 553 Japan
Search for more papers by this authorS. Okada
Department of Pediatrics, Osaka University Medical School, Osaka, 553 Japan
Search for more papers by this author
References
- 1Anderson S, Bankier AT, Barrell BG et al (1981) Sequence and organization of the human mitochondrial genome. Nature, 290: 457–465, .
- 2Bresolin N, Moggio M, Bet L et al (1987) Progressive cytochrome c oxidase deficiency in a case of Kearns-Sayre syndrome: Morphological, immunological and biochemical studies in muscle biopsies and autopsy tissues. Ann Neurol, 21: 564–572, .
- 3DiMauro S, Bonilla E, Zeviani M, Nakagawa M, De Vivo DC (1985) Mitochondrial myopathies. Ann Neurol, 17: 521–538, .
- 4Fukuhara N, Tokiguchi S, Shirakawa S, Tsubaki T (1980) Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities): disease entity or syndrome? Light- and electron-microscopic studies of two cases and review of the literature. J Neurol Sci, 47: 117–133, .
- 5Goto Y, Nonaka I, Horai S (1990) A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature, 384: 651–653, .
- 6Holt IJ, Harding AE, Morgan-Hughes JA (1988) Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature, 331: 717–719, .
- 7Inui K, Fukushima H, Tsukamoto H et al (1992) Mitochondrial encephalomyopathies with the mutation of the mitochondrial tRNALeu(URR) gene. J Pediatr, 120: 62–66, .
- 8Parlakis SG, Philipps PC, DiMauro S, De Vivo DC, Rowland LP (1984) Mitochondrial myopathy, encephalopathy, lactic, acidosis, and stroke-like episodes: A distinctive clinical syndrome. Ann Neurol, 16: 481–488, .
10.1002/ana.410160409 Google Scholar
- 9Shoffner JM, Lott MT, Lezza AMS, Seibel P, Ballinger SW, Wallence DC (1990) Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation. Cell, 61: 931–937, .
- 10Zeviani M, Amati P, Bresolin N et al (1991) Rapid detection of the A-G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF). Am J Hum Genet, 48: 203–211.