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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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| Publicado no: | Front Genet |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Frontiers Media S.A.
2015
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| 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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