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Article

Junctions in Jeopardy: the neuromuscular junction is a selective pathological target in Charcot-Marie-Tooth disease.

Mammalian genome : official journal of the International Mammalian Genome Society - 22 May 2026

Snape Louisa, Sleigh James N

Abstract excerpt

Charcot-Marie-Tooth disease (CMT) is a genetic peripheral neuropathy arising from mutations in diverse genes that principally disrupt axons and Schwann cells. As the most distal synaptic interface of motor neurons, the neuromuscular junction (NMJ) represents a plausible but underexplored site at which such disruptions may converge to confer selective peripheral neuropathy. This review synthesises current evidence...

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Identifiers

PMID: 42171767
DOI: 10.1007/s00335-026-10238-z
PMCID: PMC13197389

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

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