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Article

Parental mosaicism of a novel PMP22 mutation with a minimal neuropathic phenotype.

Journal of the peripheral nervous system : JPNS - 1 Dec 2012

Taioli Federica, Bertolasi Laura, Ajena Domenico, Ferrarini Moreno, Cabrini Ilaria, Crestanello Alberto, Fabrizi Gian Maria

Abstract excerpt

Genetic germinal and somatic mosaicisms of dominant Charcot-Marie-Tooth disease (CMT) mutations are rarely reported and/or recognized. We describe a novel heterozygous p.Trp39Cys missense mutation in the extracellular domain of the peripheral myelin protein 22 (PMP22) associated with an early-onset demyelinating CMT type 1 E (CMT1E) in two siblings born from asymptomatic non-consanguineous parents. The...

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Source

Identifiers

PMID: 23279344
DOI: 10.1111/j.1529-8027.2012.00441.x

Genes

PMP22

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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