[An OPA3 gene mutation is responsible for the disease associating optic atrophy and cataract with extrapyramidal signs].

Abstract

INTRODUCTION In 1961, Garcin et al. described a family with several members affected with optic atrophy associated with cataract, and neurological symptoms. The authors believed this condition to be distinct from other diseases known at that time, e.g. the Behr syndrome, Marinesco-Sjogren syndrome and Friedreich's ataxia. METHOD This family was followed… (More)

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