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Article

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

Molecular genetics & genomic medicine - 1 Sept 2020

Lee Ah J, Nam Da E, Choi Yu J, Noh Seung W, Nam Soo H, Lee Hye J, Kim Seung J, Song Gyun J, Choi Byung-Ok, Chung Ki W

Abstract excerpt

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, analyzed gender-specific genetic features and clinical phenotypes of the de novo cases. RESULTS: This study identified 40...

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PMID: 32648354
DOI: 10.1002/mgg3.1380
PMCID: PMC7507087

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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