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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Publicado no:Mol Med Rep
Main Authors: LEE, JINHO, JUNG, SUNG-CHUL, HONG, YOUNG BIN, YOO, JEONG HYUN, KOO, HEASOO, LEE, JA HYUN, HONG, HYUN DAE, KIM, SANG-BEOM, CHUNG, KI WHA, CHOI, BYUNG-OK
Formato: Artigo
Idioma:Inglês
Publicado em: D.A. Spandidos 2016
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Articles
Acesso em linha: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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