De Novo Variants in the DYNC1H1 Gene Associated With Infantile Spasms

Objective: The DYNC1H1 gene is related to a variety of diseases, including spinal muscular atrophy with lower extremity–predominant 1, Charcot–Marie–Tooth disease type 2O, and mental retardation, autosomal dominant13 (MRD13). Some patients with DYNC1H1 variant also had epilepsy. This study aimed to...

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Detalles Bibliográficos
Autores principales: Yang, Haipo, Gong, Pan, Jiao, Xianru, Niu, Yue, Zhou, Qiujun, Zhang, Yuehua, Yang, Zhixian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8603382/
https://www.ncbi.nlm.nih.gov/pubmed/34803881
http://dx.doi.org/10.3389/fneur.2021.733178

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8603382/
https://www.ncbi.nlm.nih.gov/pubmed/34803881
http://dx.doi.org/10.3389/fneur.2021.733178

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