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- Title
A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network.
- Authors
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
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 a newly identified OPA3 mutant.
- Publication
Journal of medical genetics, 2013, Vol 50, Issue 12, p848
- ISSN
1468-6244
- Publication type
Journal Article
- DOI
10.1136/jmedgenet-2013-101774