Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia

Disturbed mitochondrial fusion and fission have been linked to various neurodegenerative disorders. In siblings from two unrelated families who died soon after birth with a profound neurodevelopmental disorder characterized by pontocerebellar hypoplasia and apnoea, we discovered a missense mutation...

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Detalhes bibliográficos
Publicado no:Brain
Main Authors: Wan, Jijun, Steffen, Janos, Yourshaw, Michael, Mamsa, Hafsa, Andersen, Erik, Rudnik-Schöneborn, Sabine, Pope, Kate, Howell, Katherine B., McLean, Catriona A., Kornberg, Andrew J., Joseph, Jörg, Lockhart, Paul J., Zerres, Klaus, Ryan, Monique M., Nelson, Stanley F., Koehler, Carla M., Jen, Joanna C.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2016
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5840878/
https://ncbi.nlm.nih.gov/pubmed/27543974
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/aww212
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