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Article

Clinical genetics of Charcot-Marie-Tooth disease.

Journal of human genetics - 1 Mar 2023

Higuchi Yujiro, Takashima Hiroshi

Abstract excerpt

Recent research in the field of inherited peripheral neuropathies (IPNs) such as Charcot-Marie-Tooth (CMT) disease has helped identify the causative genes provided better understanding of the pathogenesis, and unraveled potential novel therapeutic targets. Several reports have described the epidemiology, clinical characteristics, molecular pathogenesis, and novel causative genes for CMT/IPNs in Japan. Based on...

Topics

Humans
Charcot-Marie-Tooth Disease
Myelin Sheath
Transcription Factors
Mitochondrial Proteins
Mutation

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 35304567
DOI: 10.1038/s10038-022-01031-2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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