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Article

How T118M peripheral myelin protein 22 predisposes humans to Charcot-Marie-Tooth disease.

The Journal of biological chemistry - 1 Feb 2023

Stefanski Katherine M, Li Geoffrey C, Marinko Justin T, Carter Bruce D, Samuels David C, Sanders Charles R

Abstract excerpt

Data from gnomAD indicate that a missense mutation encoding the T118M variation in human peripheral myelin protein 22 (PMP22) is found in roughly one of every 75 genomes of western European lineage (1:120 in the overall human population). It is unusual among PMP22 variants that cause Charcot-Marie-Tooth (CMT) disease in that it is not 100% penetrant. Here, we conducted cellular and biophysical studies to...

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Identifiers

PMID: 36581210
DOI: 10.1016/j.jbc.2022.102839
PMCID: PMC9860121

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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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