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Article

Follow-up study of 25 Chinese children with PLA2G6-associated neurodegeneration.

European journal of neurology - 1 Feb 2013

Zhang P, Gao Z, Jiang Y, Wang J, Zhang F, Wang S, Yang Y, Xiong H, Zhang Y, Bao X, Xiao J, Wu X, Wu Y

Abstract excerpt

BACKGROUND: To perform a follow-up of 25 Chinese children with gene-confirmed PLA2G6-associated neurodegeneration (PLAN). METHODS: We recruited patients with infantile neuroaxonal dystrophy (INAD) according to the criteria proposed by Nardocci et al. Follow-up was conducted from 7 months to 8 years after the first visit. The PLA2G6 gene was sequenced, and copy number variation (CNV) was detected in patients with...

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PMID: 22934738
DOI: 10.1111/j.1468-1331.2012.03856.x

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