caa a22 4500 445357525 CHVBK 20180317142905.0 cr unu---uuuuu 170323e20111001xx s 000 0 eng 10.1007/s10072-011-0719-9 doi (NATIONALLICENCE)springer-10.1007/s10072-011-0719-9 Variable phenotypes in a family with mitochondrial encephalomyopathy harboring a 3291T>C mutation in mitochondrial DNA [Elektronische Daten] [Yoko Sunami, Keizo Sugaya, Norio Chihara, Yu-ichi Goto, Shiro Matsubara] We present a Japanese family suffering from mitochondrial encephalomyopathy associated with a T-to-C transition at mitochondrial DNA (mtDNA) nucleotide position 3291. Clinical manifestations of the patients include cerebellar ataxia with myopathy, recurrent headache, and myoclonus and epilepsy. The phenotypic variation among the affected members of a single family and the mutational analysis showing maternal inheritance in a heteroplasmic fashion are consistent with well-recognized phenomena associated with many pathogenic point mutations of mtDNA tRNA genes. The 3291 mutation is a rare mtDNA mutation whose clinical presentation had only been reported in three sporadic cases. This is the first report of a family segregating the 3291 mutation with multigenerational matrilinear recurrence of mitochondrial encephalopathy. Our findings provide conclusive evidence for the pathogenicity of the 3291T>C mutation in mtDNA and its characteristic clinical heterogeneity. The Author(s), 2011 Mitochondrial encephalomyopathy nationallicence Family case nationallicence 3291T>C nationallicence mtDNA mutation nationallicence Sunami Yoko Department of Neurology, Tokyo Metropolitan Neurological Hospital, 2-6-1 Musashidai, 183-0042, Fuchu, Tokyo, Japan aut Sugaya Keizo Department of Neurology, Tokyo Metropolitan Neurological Hospital, 2-6-1 Musashidai, 183-0042, Fuchu, Tokyo, Japan aut Chihara Norio Department of Neurology, National Center Hospital of Neurological and Psychiatry, Kodaira, Tokyo, Japan aut Goto Yu-ichi Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, NCNP, Kodaira, Tokyo, Japan aut Matsubara Shiro Department of Neurology, Tokyo Metropolitan Neurological Hospital, 2-6-1 Musashidai, 183-0042, Fuchu, Tokyo, Japan aut Neurological Sciences Springer Milan 32/5(2011-10-01), 861-864 1590-1874 32:5<861 2011 32 10072 https://doi.org/10.1007/s10072-011-0719-9 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10072-011-0719-9 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Sunami Yoko Department of Neurology, Tokyo Metropolitan Neurological Hospital, 2-6-1 Musashidai, 183-0042, Fuchu, Tokyo, Japan aut NATIONALLICENCE 700 1- Sugaya Keizo Department of Neurology, Tokyo Metropolitan Neurological Hospital, 2-6-1 Musashidai, 183-0042, Fuchu, Tokyo, Japan aut NATIONALLICENCE 700 1- Chihara Norio Department of Neurology, National Center Hospital of Neurological and Psychiatry, Kodaira, Tokyo, Japan aut NATIONALLICENCE 700 1- Goto Yu-ichi Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, NCNP, Kodaira, Tokyo, Japan aut NATIONALLICENCE 700 1- Matsubara Shiro Department of Neurology, Tokyo Metropolitan Neurological Hospital, 2-6-1 Musashidai, 183-0042, Fuchu, Tokyo, Japan aut NATIONALLICENCE 773 0- Neurological Sciences Springer Milan 32/5(2011-10-01), 861-864 1590-1874 32:5<861 2011 32 10072 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer