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Article

Severe phenotype with cis-acting heterozygous PMP22 mutations.

Clinical genetics - 1 Mar 2009

Niedrist D, Joncourt F, Mátyás G, Müller A

Abstract excerpt

We report on a 20-year-old male with severe Charcot-Marie-Tooth (CMT) disease and a de novo deletion (c.281delG, p.G94AfsX17) on the paternal PMP22 allele harboring c.353C>T (p.T118M). RNA-based sequence analysis confirmed the absence of nonsense-mediated decay and the presence of the mutant transcripts in Epstein-Barr virus-transformed lymphoblastoid cells of our patient. His clinical findings included early...

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Source

Identifiers

PMID: 19067730
DOI: 10.1111/j.1399-0004.2008.01120.x

Genes

PMP22

Variants

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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