Novel PANK2 Mutations in Patients With Pantothenate Kinase-Associated Neurodegeneration and the Genotype–Phenotype Correlation

Pantothenate kinase-associated neurodegeneration (PKAN) is a rare genetic disorder caused by mutations in the mitochondrial pantothenate kinase 2 (PANK2) gene and displays an inherited autosomal recessive pattern. In this study, we identified eight PANK2 mutations, including three novel mutations (c...

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Detalles Bibliográficos
Autores principales: Li, Wen-Bin, Shen, Nan-Xiang, Zhang, Chao, Xie, Huan-Cheng, Li, Zong-Yan, Cao, Li, Chen, Li-Zhi, Zeng, Yuan-jin, Fan, Cui-Xia, Chen, Qian, Shi, Yi-Wu, Song, Xing-Wang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9019683/
https://www.ncbi.nlm.nih.gov/pubmed/35462688
http://dx.doi.org/10.3389/fnagi.2022.848919

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