Homozygous UNC13A Variant in an Infant With Congenital Encephalopathy and Severe Neuromuscular Phenotype: A Case Report With Detailed Central Nervous System Neuropathologic Findings

Uncoordinated 13 (UNC13A) affects movement in Caenorhabditis elegans (C. elegans). It is responsible for docking, priming, and stabilizing synaptic vesicle fusion complexes in the neuronal synapse and neuromuscular junction (NMJ). It also plays an important role in central nervous system development...

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Detalles Bibliográficos
Autores principales: Mullins, Jordyn R, McFadden, Kathryn, Snow, Nicole, Oviedo, Angelica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9701132/
https://www.ncbi.nlm.nih.gov/pubmed/36447687
http://dx.doi.org/10.7759/cureus.30774

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9701132/
https://www.ncbi.nlm.nih.gov/pubmed/36447687
http://dx.doi.org/10.7759/cureus.30774

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