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Article

Expanding the phenotypic spectrum of TRIM2-associated Charcot-Marie-Tooth disease.

Journal of the peripheral nervous system : JPNS - 1 Dec 2020

Magri Stefania, Danti Federica Rachele, Balistreri Francesca, Baratta Silvia, Ciano Claudia, Pagliano Emanuela, Taroni Franco, Moroni Isabella

Abstract excerpt

Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous group of distal symmetric polyneuropathies due to progressive and length-dependent degeneration of peripheral nerves. Cranial nerve involvement has been described in association with various CMT-genes mutations, such as GDAP1, TRPV4, MFN2, MTMR2 and EGR2. Compound heterozygous mutations in the TRIM2 gene, encoding an E3 ubiquitin...

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Identifiers

PMID: 32815244
DOI: 10.1111/jns.12410

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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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