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Article

Mutation analysis of PMP22 in Slovak patients with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.

General physiology and biophysics - 1 Dec 2011

Resko Peter, Radvansky Jan, Odnogova Zuzana, Baldovic Marian, Minarik Gabriel, Polakova Helena, Palffy Roland, Kadasi Ludevit

Abstract excerpt

Charcot-Marie-Tooth disease (CMT) and related peripheral neuropathies are the most commonly inherited neurological disorders in humans, characterized by clinical and genetic heterogeneity. The most prevalent clinical entities belonging to this group of disorders are CMT type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP). CMT1A and HNPP are predominantly caused by a 1.5 Mb...

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Source

Identifiers

PMID: 22131320
DOI: 10.4149/gpb_2011_04_379

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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