Article
Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients.
Genes - 8 Jul 2022
Jung Na Young, Kwon Hye Mi, Nam Da Eun, Tamanna Nasrin, Lee Ah Jin, Kim Sang Beom, Choi Byung-Ok, Chung Ki Wha
Abstract excerpt
Duplication and deletion of the peripheral myelin protein 22 (PMP22) gene cause Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP), respectively, while point mutations or small insertions and deletions (indels) usually cause CMT type 1E (CMT1E) or HNPP. This study was performed to identify PMP22 mutations and to analyze the genotype−phenotype...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.