Identification of a Novel Nonsense Mutation in PLA2G6 and Prenatal Diagnosis in a Chinese Family With Infantile Neuroaxonal Dystrophy

BACKGROUND AND PURPOSE: Infantile neuroaxonal dystrophy (INAD) is a subtype of PLA2G6-Associated Neurodegeneration (PLAN) with an age of early onset and severe clinical phenotypes of neurodegeneration. Individuals affected with INAD are characterized by rapid progressive psychomotor deterioration, n...

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Detalles Bibliográficos
Autores principales: Zou, Yongyi, Luo, Haiyan, Yuan, Huizhen, Xie, Kang, Yang, Yan, Huang, Shuhui, Yang, Bicheng, Liu, Yanqiu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9298276/
https://www.ncbi.nlm.nih.gov/pubmed/35873758
http://dx.doi.org/10.3389/fneur.2022.904027

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9298276/
https://www.ncbi.nlm.nih.gov/pubmed/35873758
http://dx.doi.org/10.3389/fneur.2022.904027

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