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Article

Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease.

Annals of neurology - 1 Apr 2005

Meggouh Farid, de Visser Marianne, Arts Willem F M, De Coo Rene I F M, van Schaik Ivo N, Baas Frank

Abstract excerpt

A 2-year-old boy presented with early-onset Charcot-Marie-Tooth disease (CMT). His parents had not been diagnosed previously with CMT, but on careful examination they showed clinical signs of CMT and reduced nerve conduction velocities. Genetic analysis identified the boy as a heterozygote for both a peripheral myelin protein 22 (PMP22) duplication and a mutation in the...

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Source

Identifiers

PMID: 15786462
DOI: 10.1002/ana.20434

Genes

LITAF
PMP22

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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