Paternal gender specificity and mild phenotypes in Charcot–Marie–Tooth type 1A patients with de novo 17p12 rearrangements

Paternal gender specificity and mild phenotypes in Charcot–Marie–Tooth type 1A patients with de novo 17p12 rearrangements

Abstract Background Charcot–Marie–Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are developed by duplication and deletion of the 17p12 (PMP22) region, respectively. Methods De novo rates were determined in 211 CMT1A or HNPP trio families, and then,...

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Bibliographic Details
Main Authors: Ah J. Lee, Da E. Nam, Yu J. Choi, Seung W. Noh, Soo H. Nam, Hye J. Lee, Seung J. Kim, Gyun J. Song, Byung‐Ok Choi, Ki W. Chung
Format: Article
Language:English
Published: Wiley 2020-09-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Charcot–Marie–Tooth disease 1A (CMT1A)
de novo mutation
gender specificity
hereditary neuropathy with liability to pressure palsies (HNPP)
Online Access:https://doi.org/10.1002/mgg3.1380

Internet

https://doi.org/10.1002/mgg3.1380

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