Cargando…

Novel PLA2G6 Pathogenic Variants in Chinese Patients With PLA2G6-Associated Neurodegeneration

BACKGROUND: PLA2G6-associated neurodegeneration (PLAN) is a heterogeneous group of neurodegenerative diseases caused by biallelic PLA2G6 mutations, covering diseases such as infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal dystrophy (ANAD), dystonia parkinsonism (DP), and autosomal reces...

Descripción completa

Detalles Bibliográficos
Autores principales: Wan, Yalan, Jiang, Yanyan, Xie, Zhiying, Ling, Chen, Du, Kang, Li, Ran, Yuan, Yun, Wang, Zhaoxia, Sun, Wei, Jin, Haiqiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9327523/
https://www.ncbi.nlm.nih.gov/pubmed/35911906
http://dx.doi.org/10.3389/fneur.2022.922528