Article

Charcot-Marie-Tooth disease type 1E: Clinical Natural History and Molecular Impact of <i>PMP22</i> Variants

2025-05-02

Abstract excerpt

Charcot-Marie-Tooth disease type 1E (CMT1E) is a rare, autosomal dominant peripheral neuropathy caused by missense variants, deletions, and truncations within the peripheral myelin protein-22 ( PMP22 ) gene. CMT1E phenotypes vary depending on the specific variant, ranging from mild to severe, and there is little natural history and phenotypic progression data on individuals with CMT1E. Patients with CMT1E were e...

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Literature Corpus work: 2cd4e82c-75de-536f-a01f-712439296e88
DOI: 10.1101/2025.05.01.25326605

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