Detection of the A to G(3243) mutation of mitochondrial DNA in Japanese families with mitochondrial encephalomyopathies
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF02435964
Reference10 articles.
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3. DiMauro S, Bonilla E, Zeviani M, Nakagawa M, De Vivo DC (1985) Mitochondrial myopathies.Ann Neurol 17: 521–538.
4. Fukuhara 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.
5. Goto 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.
Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Treatment of mitochondrial encephalomyopathy with a combination of cytochrome C and vitamins B1 and B2;Brain and Development;1997-06
2. Extreme variability of clinical symptoms among sibs in a MELAS family correlated with heteroplasmy for the mitochondrial A3243G mutation;Journal of the Neurological Sciences;1994-06
3. Quantification of tRNA3243Leu point mutation of mitochondrial DNA in MELAS patients and its effects on mitochondrial transcription;Human Molecular Genetics;1993
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