Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy

Carmel Toomes, Nicola J. Marchbank, David A. Mackey, Jamie E. Craig, Ruth A. Newbury-Ecob, Chris P. Bennett, Colin J. Vize, Shrivatsa P. Desai, Graeme C M Black, Nishal Patel, Masoud Teimory, Alexander F. Markham, Chris F. Inglehearn, Amanda J. Churchill