Early-onset Behr syndrome due to compound heterozygous mutations in OPA1

Bonneau D, Colin E, Oca F, Ferre M, Chevrollier A, Gueguen N, Desquiret-Dumas V, N'Guyen S, Barth M, Zanlonghi X, Rio M, Desguerre I, Barnerias C, Momtchilova M, Rodriguez D, Slama A, Lenaers G, Procaccio V, Amati-Bonneau P, Reynier P. Early-onset Behr syndrome due to compound heterozygous mutations in OPA1. Brain. 2014 Oct;137(Pt 10):e301.