Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion

Mutations in SUCLA2 result in succinyl-CoA ligase (ATP-forming) or succinyl-CoA synthetase (ADP-forming) (A-SCS) deficiency, a mitochondrial tricarboxylic acid cycle disorder. The phenotype associated with this gene defect is largely encephalomyopathy. We describe two siblings compound heterozygous...

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Publié dans:Mol Genet Metab
Auteurs principaux: Huang, Xiaoping, Bedoyan, Jirair K., Demirbas, Didem, Harris, David J., Miron, Alexander, Edelheit, Simone, Grahame, George, DeBrosse, Suzanne D., Wong, Lee-Jun, Hoppel, Charles L., Kerr, Douglas S., Anselm, Irina, Berry, Gerard T.
Format: Artigo
Langue:Inglês
Publié: 2016
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5346465/
https://ncbi.nlm.nih.gov/pubmed/27913098
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2016.11.005
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