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

J Biol Chem · 2023 · PMC9860121 · PMID 36581210

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possibly significantno p-value reported

It is possibly significant that the T118 site in PMP22 is atypical among most known disease mutation sites in this protein in that it is not involved in tertiary structural interactions located within the transmembrane domain but is instead located in the second water-exposed extracellular loop of PMP22 ( Fig. 1 ).

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