PAW34 Mutations in OPA1 expand the clinical phenotype of mitochondrial disease
P Chinnery, M Jackson, P Amati-Bonneau, P Yu-Wai-Man, G Gorman, P Duffey, M Baker, M Zeviani, R Horvath, J Miller
Journal of Neurology, Neurosurgery & Psychiatry Nov 2010, 81 (11) e32-e33; DOI: 10.1136/jnnp.2010.226340.62