Article
A systematic analysis of genotype-phenotype associations with PLA2G6.
Parkinsonism & related disorders - 1 Jul 2023
Xue Jian, Ding Dong-Xue, Xu Guang-Yu, Wang Pu-Zhi, Ge Yi-Lun, Zhang Jin-Ru, Cheng Xiao-Yu, Wang Yi-Ming, Jin Hong, Luo Si-Yang, Zheng Yu-Han, Chen Jing, Wang Fen, Li Dan, Mao Cheng-Jie, Li Kai, Liu Chun-Feng
Abstract excerpt
BACKGROUND: PLA2G6-associated neurodegeneration (PLAN) can be categorized into infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal dystrophy (aNAD), neurodegeneration with brain iron accumulation (NBIA), and early-onset parkinsonism (EOP). OBJECTIVES: To determine the genotype-phenotype association in PLAN. METHODS: "PLA2G6" or "PARK14" or "phospholipase A2 group VI" or "iPLA2β" were searched across...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
