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Article

Clinically relevant mouse models of Charcot-Marie-Tooth type 2S.

Human molecular genetics - 6 Apr 2023

Martin Paige B, Holbrook Sarah E, Hicks Amy N, Hines Timothy J, Bogdanik Laurent P, Burgess Robert W, Cox Gregory A

Abstract excerpt

Charcot-Marie-Tooth disease is an inherited peripheral neuropathy that is clinically and genetically heterogenous. Mutations in IGHMBP2, a ubiquitously expressed DNA/RNA helicase, have been shown to cause the infantile motor neuron disease spinal muscular atrophy with respiratory distress type 1 (SMARD1), and, more recently, juvenile-onset Charcot-Marie-Tooth disease type 2S (CMT2S). Using CRISPR-cas9...

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Identifiers

PMID: 36413117
DOI: 10.1093/hmg/ddac283
PMCID: PMC10077500

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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