Učitavanje...
Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1
Mutations in the optic atrophy 1 gene (OPA1) are associated with autosomal dominant optic atrophy and 20% of patients demonstrate extra-ocular manifestations. In addition to these autosomal dominant cases, only a few syndromic cases have been reported thus far with compound heterozygous OPA1 mutatio...
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| Izdano u: | Mol Med Rep |
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| Glavni autori: | , , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
D.A. Spandidos
2016
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4918608/ https://ncbi.nlm.nih.gov/pubmed/27150940 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/mmr.2016.5209 |
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