Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1

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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Bibliographic Details
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
Format: Online
Language:English
Published: D.A. Spandidos 2016
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4918608/

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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4918608/

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