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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...

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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:	Neurology
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

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