Multi-system neurological disease is common in patients with OPA1 mutations

Multi-system neurological disease is common in patients with OPA1 mutations

Additional neurological features have recently been described in seven families transmitting pathogenic mutations in OPA1, the most common cause of autosomal dominant optic atrophy. However, the frequency of these syndromal 'dominant optic atrophy plus' variants and the extent of neurologi...

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Main Authors: Yu- (Author), Griffiths, P. G. (Author), Gorman, G. S. (Author), Lourenco, C. M. (Author), Wright, A. F. (Author), Auer-Grumbach, M. (Author), Toscano, A. (Author), Musumeci, O. (Author), Valentino, M. L. (Author), Caporali, L. (Author), Lamperti, C. (Author), Tallaksen, C. M. (Author), Duffey, P. (Author), Miller, J. (Author), Whittaker, R. G. (Author), Baker, M. R. (Author), Jackson, M. J. (Author), Clarke, M. P. (Author), Dhillon, B. (Author), Czermin, B. (Author), Stewart, J. D. (Author), Hudson, G. (Author), Reynier, P. (Author), Bonneau, D. (Author), Marques, W. (Author), Lenaers, G. (Author), McFarland, R. (Author), Taylor, R .W (Author), Turnbull, D. M. (Author), Votruba, M. (Author), Zeviani, M. (Author), Carelli, V. (Author), Bindoff, L .A (Author), Horvath, R. (Author), Amati-Bonneau, P. (Author), Chinnery, P. F. (Author)
Format: Article
Language:English
Published: 2010-03.
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