Charcot-Marie-Tooth disease type 1E: clinical natural history and molecular impact of PMP22 variants

Overview of attention for article published in Brain, June 2025

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Open Access UCL Research: Charcot-Marie-Tooth disease type 1E: clinical natural history and molecular impact of PMP22 variant discovery.ucl.ac.uk/id/eprint/10...

Based on an analysis of 24 PMP22 variants in 50 patients with CMT1E, Ward et al. show that disease severity correlates with the extent to which the variants impair trafficking of PMP22 to the plasma membrane. tinyurl.com/3amj7aed

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