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Neuroimaging studies and whole exome sequencing of PLA2G6-associated neurodegeneration in a family with intrafamilial phenotypic heterogeneity.

Parkinsonism & related disorders - 1 Apr 2015

Kim Yun Joong, Lyoo Chul Hyoung, Hong Sangkyoon, Kim Nan Young, Lee Myung Sik

Abstract excerpt

BACKGROUND: PLA2G6-associated neurodegeneration (PLAN) encompasses infantile- or atypical neuroaxonal dystrophy, and adult-onset dystonia-parkinsonism. Examination of the intrafamilial phenotypic variability of PLAN by neuroimaging data and background genetic differences has not been reported. METHODS: We report clinical, genetic (whole exome sequencing data), and neuroimaging findings from a Korean PLAN family...

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PMID: 25634434
DOI: 10.1016/j.parkreldis.2015.01.010

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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