Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria

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...

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Bibliographic Details
Main Authors: Christina Lam, Linda K. Gallo, Richard Dineen, Carla Ciccone, Heidi Dorward, George E. Hoganson, Lynne Wolfe, William A. Gahl, Marjan Huizing
Format: Article
Language:English
Published: Elsevier 2014-01-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Costeff optic atrophy syndrome
Extrapyramidal dysfunction
3-Methyl glutaconic aciduria
Mitochondrial pathology
OPA3
Optic atrophy plus syndrome
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426914000196

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http://www.sciencedirect.com/science/article/pii/S2214426914000196

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