OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria

3-Methylglutaconicaciduria type III (3-MGCA type III), caused by recessive mutations in the 2-exon gene OPA3, is characterized by early-onset bilateral optic atrophy, later-onset extrapyramidal dysfunction, and increased urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid. Here we...

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Main Authors: Huizing, Marjan, Dorward, Heidi, Ly, Lien, Klootwijk, Enriko, Kleta, Robert, Skovby, Flemming, Pei, Wuhong, Feldman, Benjamin, Gahl, William A., Anikster, Yair
Format: Artigo
Sprog:Inglês
Udgivet: 2010
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2872056/
https://ncbi.nlm.nih.gov/pubmed/20350831
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2010.03.005
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