Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/jhg200415.pdf
Reference34 articles.
1. Akanuma J, Muraki K, Komaki H, Nonaka I, Goto Y (2000) Two pathogenic point mutations exist in the authentic mitochondrial genome, not in the nuclear pseudogene. J Hum Genet 45:337–341
2. Arii J, Tanabe Y (2000) Leigh syndrome: serial MR imaging and clinical follow-up. Am J Neuroradiol 21:1502–1509
3. Berkovic SF, Shoubridge EA, Andermann F, Andermann E, Carpenter S, Karpati G (1991) Clinical spectrum of mitochondrial DNA mutation at base pair 8344. Lancet 338:457
4. Bai Y, Shakeley RM, Attardi G (2000) Tight control of respiration by NADH dehydrogenase ND5 subunit gene expression in mouse mitochondria. Mol Cell Biol 20:905–815
5. Campos Y, Martin MA, Rubio JC, Solana LG, Garcia-Benayas C, Terradas JL, Arenas J (1997) Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA. Neurology 49:595–597
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