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PLENARY 4 | CMT1E: Clinical Natural History and Molecular Impact of PMP22 Variants | Michael Shy
Автор: ECMTF European CMT Federation
Загружено: 2025-11-24
Просмотров: 18
Описание:
CMT1E is a rare neuropathy caused by variants in the PMP22 gene. This study analyzed 50 individuals to define the natural history of the disease and correlate specific variants with severity. The findings show that variants located within the transmembrane regions of the PMP22 protein typically cause a more severe, early-onset phenotype due to impaired protein trafficking.
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