Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency

Loss-of-function and hypomorphic ECHS1 variants are associated with mitochondrial short-chain enoyl-CoA hydratase deficiency, an inborn error of valine metabolism. We report an 8-year-old boy with developmental delay, ataxia, hemiplegia, and hearing loss with abnormalities in the basal ganglia. Bioc...

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Publicado en:JIMD Rep
Autores principales: Carlston, Colleen M., Ferdinandusse, Sacha, Hobert, Judith A., Mao, Rong, Longo, Nicola
Formato: Artigo
Lenguaje:Inglês
Publicado: Springer Berlin Heidelberg 2018
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6323015/
https://ncbi.nlm.nih.gov/pubmed/29923089
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2018_111
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