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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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| Udgivet i: | Front Genet |
|---|---|
| Main Authors: | , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Frontiers Media S.A.
2015
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| Fag: | |
| Online adgang: | 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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