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Article

Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy.

Muscle & nerve - 1 Dec 2014

Potulska-Chromik Anna, Sinkiewicz-Darol Elena, Ryniewicz Barbara, Lipowska Marta, Kabzińska Dagmara, Kochański Andrzej, Kostera-Pruszczyk Anna

Abstract excerpt

INTRODUCTION: The first episode of hereditary neuropathy with liability to pressure palsy (HNPP) in childhood is rare. METHODS: We analyzed retrospectively the data of 7 patients with a deletion in PMP22 and onset of symptoms before age 18 years. Direct sequencing of the LITAF (lipopolysaccharide-induced tumor necrosis factor) gene was performed in patients and family members. RESULTS: Clinical presentations...

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Source

Identifiers

PMID: 24668782
DOI: 10.1002/mus.24250

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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