Article
Genotype-phenotype correlations of adult-onset PLA2G6-associated Neurodegeneration: case series and literature review.
BMC neurology - 17 Mar 2020
Chu Yung-Tsai, Lin Han-Yi, Chen Pei-Lung, Lin Chin-Hsien
Abstract excerpt
BACKGROUND: Phospholipase A2 group VI (PLA2G6) mutations associated with neurodegeneration (PLAN) manifest as heterogeneous neurodegenerative disorders with variable ages of onset. The genotype-phenotype correlation is not well-established. We aim to describe three adult patients with PLAN and combined these data with results from previous studies to elucidate adult-onset PLA2G6 phenotype-genotype correlations....
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