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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Detalles Bibliográficos
Autores principales: Charif, Majida, Roubertie, Agathe, Salime, Sara, Mamouni, Sonia, Goizet, Cyril, Hamel, Christian P., Lenaers, Guy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2015
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4609881/
https://www.ncbi.nlm.nih.gov/pubmed/26539208
http://dx.doi.org/10.3389/fgene.2015.00311

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4609881/
https://www.ncbi.nlm.nih.gov/pubmed/26539208
http://dx.doi.org/10.3389/fgene.2015.00311

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