Article

An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration

2023-12-24

Abstract excerpt

<h4>Background</h4> PLA2G6-associated neurodegeneration (PLAN) comprises three diseases with overlapping features: infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal dystrophy (atypical NAD), and PLA2G6-related dystonia-parkinsonism. INAD is an early onset disease characterized by progressive loss of vision, muscular control, and mental skills. The prevalence of PLA2G6-associated diseases has not been pr...

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Literature Corpus work: 9dc4ab12-f4bf-5d18-b83b-9fff519a83ca
DOI: 10.1101/2023.12.21.23300352

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