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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Dades bibliogràfiques
Publicat a:Cold Spring Harb Mol Case Stud
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: Cold Spring Harbor Laboratory Press 2019
Matèries:
Research Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6549558/
https://ncbi.nlm.nih.gov/pubmed/30850373
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a003673
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