A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression

We report a Caucasian boy with intractable epilepsy and global developmental delay. Whole-exome sequencing identified the likely genetic etiology as a novel p.K212E mutation in the X-linked gene HSD17B10 for mitochondrial short-chain dehydrogenase/reductase SDR5C1. Mutations in HSD17B10 cause the HS...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:RNA Biol
Prif Awduron: Falk, Marni J., Gai, Xiaowu, Shigematsu, Megumi, Vilardo, Elisa, Takase, Ryuichi, McCormick, Elizabeth, Christian, Thomas, Place, Emily, Pierce, Eric A., Consugar, Mark, Gamper, Howard B., Rossmanith, Walter, Hou, Ya-Ming
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Taylor & Francis 2016
Pynciau:
Brief Communication
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4962811/
https://ncbi.nlm.nih.gov/pubmed/26950678
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/15476286.2016.1159381
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