Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria
OPA3-related 3-methylglutaconic aciduria, or Costeff Optic Atrophy syndrome, is a neuro-ophthalmologic syndrome of early-onset bilateral optic atrophy and later-onset spasticity, and extrapyramidal dysfunction. Urinary excretion of 3-methylglutaconic acid and of 3-methylglutaric acid is markedly inc...
Main Authors: | , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2014-01-01
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Series: | Molecular Genetics and Metabolism Reports |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426914000196 |