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Motor and sensory neuropathy due to myelin infolding and paranodal damage in a transgenic mouse model of Charcot-Marie-Tooth disease type 1C.

Human molecular genetics - 1 May 2013

Lee Samuel M, Sha Di, Mohammed Anum A, Asress Seneshaw, Glass Jonathan D, Chin Lih-Shen, Li Lian

Abstract excerpt

Charcot-Marie-Tooth disease type 1C (CMT1C) is a dominantly inherited motor and sensory neuropathy. Despite human genetic evidence linking missense mutations in SIMPLE to CMT1C, the in vivo role of CMT1C-linked SIMPLE mutations remains undetermined. To investigate the molecular mechanism underlying CMT1C pathogenesis, we generated transgenic mice expressing either wild-type or CMT1C-linked W116G human SIMPLE....

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Identifiers

PMID: 23359569
DOI: 10.1093/hmg/ddt022
PMCID: PMC3613163

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Source receipt: pubmed, retrieved 7 Sept 2026.

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