نتایج جستجو برای: leigh syndrome
تعداد نتایج: 623686 فیلتر نتایج به سال:
1. DiMauro, S., and Schon, E.A. 2003. Mitochondrial respiratory-chain diseases. N. Engl. J. Med. 348:2656–2668. 2. Janssen, R.J., Van Den Heuvel, L.P., and Smeitink, J.A. 2004. Genetic defects in the oxidative phosphorylation (OXPHOS) system. Expert Rev. Mol. Diagn. 4:143–156. 3. Zhu, Z., et al. 1998. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Lei...
BACKGROUND An increasing number of mitochondrial DNA (mtDNA) mutations, mainly in complex I genes, have been associated with variably overlapping phenotypes of Leber's hereditary optic neuropathy (LHON), mitochondrial encephalomyopathy with stroke-like episodes (MELAS) and Leigh syndrome (LS). We here describe the first case in which the m.4171C>A/MT-ND1 mutation, previously reported only in as...
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