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Article

Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration.

Brain : a journal of neurology - 1 Aug 2008

Zhang Xuebao, Chow Clement Y, Sahenk Zarife, Shy Michael E, Meisler Miriam H, Li Jun

Abstract excerpt

Recessive Charcot-Marie-Tooth disease type-4J (CMT4J) and its animal model, the pale tremor mouse (plt), are caused by mutations of the FIG4 gene encoding a PI(3,5)P(2) 5-phosphatase. We describe the 9-year clinical course of CMT4J, including asymmetric, rapidly progressive paralysis, in two siblings. Sensory symptoms were absent despite reduced numbers of sensory axons. Thus, the phenotypic presentation of CMT4J...

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Identifiers

PMID: 18556664
DOI: 10.1093/brain/awn114
PMCID: PMC2724900

Genes

FIG4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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