Behr syndrome (BEHRS) is an autosomal recessive syndrome characterized by the association of early-onset optic atrophy with spinocerebellar degeneration resulting in ataxia, pyramidal signs, peripheral neuropathy and developmental delay. It has been reported that mutations in OPA1 cause this syndrome. OPA1 encodes a dynamin-related GTPase involved in mitochondrial dynamics and mtDNA maintenance.
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
タイトル
Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.
