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A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability

Dominant optic neuropathies causing fiber loss in the optic nerve are among the most frequent inherited mitochondrial diseases. In most genetically resolved cases, the disease is associated to a mutation in OPA1, which encodes an inner mitochondrial dynamin involved in network fusion, cristae struct...

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Detalhes bibliográficos
Publicado no:Front Genet
Main Authors: Charif, Majida, Roubertie, Agathe, Salime, Sara, Mamouni, Sonia, Goizet, Cyril, Hamel, Christian P., Lenaers, Guy
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4609881/
https://ncbi.nlm.nih.gov/pubmed/26539208
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2015.00311
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