A Novel Mutation in the HSD17B10 Gene of a 10-Year-Old Boy with Refractory Epilepsy, Choreoathetosis and Learning Disability

Hydroxysteroid (17beta) dehydrogenase 10 (HSD10) is a mitochondrial multifunctional enzyme encoded by the HSD17B10 gene. Missense mutations in this gene result in HSD10 deficiency, whereas a silent mutation results in mental retardation, X-linked, syndromic 10 (MRXS10). Here we report a novel missen...

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Detalles Bibliográficos
Autores principales: Seaver, Laurie H., He, Xue-Ying, Abe, Keith, Cowan, Tina, Enns, Gregory M., Sweetman, Lawrence, Philipp, Manfred, Lee, Sansan, Malik, Mazhar, Yang, Song-Yu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3222643/
https://www.ncbi.nlm.nih.gov/pubmed/22132097
http://dx.doi.org/10.1371/journal.pone.0027348

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