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Article

Identification and Targeted Correction of a Pathogenic PMP22 Deep Intronic Variant.

International journal of molecular sciences - 16 Apr 2026

Chausova Polina, Murtazina Aysylu, Bychkov Igor, Anisimova Inga, Ilyushkina Alexandra, Mollaeva Kamilla, Magomedova Asiyat, Tabakov Vyacheslav, Hegay Tatyana, Chukhrova Alena, Polyakov Aleksandr

Abstract excerpt

Pathogenic variants in the PMP22 gene can lead to hereditary peripheral demyelinating neuropathies of varying severity, including hereditary neuropathy with liability to pressure palsies (HNPP), Charcot-Marie-Tooth disease types 1A and 1E (CMT1A, CMT1E), Roussy-Lévy syndrome, and Dejerine-Sottas disease (DSS). This study describes a novel deep intronic variant c.179-2809A>G in the PMP22 gene, identified in two...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42074212
DOI: 10.3390/ijms27083572
PMCID: PMC13115777

Genes

PMP22

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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