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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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Detalles Bibliográficos
Autores principales:	Lam, Christina, Gallo, Linda K., Dineen, Richard, Ciccone, Carla, Dorward, Heidi, Hoganson, George E., Wolfe, Lynne, Gahl, William A., Huizing, Marjan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2014
Materias:	Research Paper
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3987911/ https://www.ncbi.nlm.nih.gov/pubmed/24749080 http://dx.doi.org/10.1016/j.ymgmr.2014.02.003

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