Association of miR-149 polymorphism with onset age and severity in Charcot-Marie-Tooth disease type 1A.

doi:10.1016/j.nmd.2018.04.002

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Article

Association of miR-149 polymorphism with onset age and severity in Charcot-Marie-Tooth disease type 1A.

Neuromuscular disorders : NMD - 1 Jun 2018

Nam Soo Hyun, Kanwal Sumaira, Nam Da Eun, Lee Min Hee, Kang Tae Hoon, Jung Sung-Chul, Choi Byung-Ok, Chung Ki Wha

Abstract excerpt

Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by 1.5-fold increased dosage of the PMP22; however, onset age and severity vary considerably among patients. The exact reason behind these phenotypic heterogeneities has rarely been discovered yet. Because miRNAs are the key regulators of gene expression, we speculated that variants of miRNAs might be the genetic modifiers for CMT1A. This study noticed a...

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Identifiers

PMID: 29729827
DOI: 10.1016/j.nmd.2018.04.002

Genes

PMP22

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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.