Article
A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network.
Journal of medical genetics - 1 Dec 2013
Grau Tanja, Burbulla Lena F, Engl Gertraud, Delettre Cécile, Delprat Benjamin, Oexle Konrad, Leo-Kottler Beate, Roscioli Tony, Krüger Rejko, Rapaport Doron, Wissinger Bernd, Schimpf-Linzenbold Simone
Abstract excerpt
BACKGROUND: Mutations in OPA3 have been reported in patients with autosomal dominant optic atrophy plus cataract and Costeff syndrome. Here, we report the results of a comprehensive study on OPA3 mutations, including the mutation spectrum and its prevalence in a large cohort of OPA1-negative autosomal dominant optic atrophy (ADOA) patients, the associated clinical phenotype and the functional characterisation of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.