De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures

DNM1L encodes a GTPase of the dynamin superfamily, which plays a crucial role in mitochondrial and peroxisomal fission. Pathogenic variants affecting the middle domain and the GTPase domain of DNM1L have been implicated in encephalopathy because of defective mitochondrial and peroxisomal fission 1 (...

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Detalles Bibliográficos
Autores principales: Assia Batzir, Nurit, Bhagwat, Pranjali K., Eble, Tanya N., Liu, Pengfei, Eng, Christine M., Elsea, Sarah H., Robak, Laurie A., Scaglia, Fernando, Goldman, Alica M., Dhar, Shweta U., Wangler, Michael F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2019
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6549558/
https://www.ncbi.nlm.nih.gov/pubmed/30850373
http://dx.doi.org/10.1101/mcs.a003673

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6549558/
https://www.ncbi.nlm.nih.gov/pubmed/30850373
http://dx.doi.org/10.1101/mcs.a003673

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