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Article

Phenotypic heterogeneity in patients with NEFL-related Charcot-Marie-Tooth disease.

Molecular genetics & genomic medicine - 1 Feb 2022

Kim Hye Jin, Kim Sang Beom, Kim Hyun Su, Kwon Hye Mi, Park Jae Hong, Lee Ah Jin, Lim Si On, Nam Soo Hyun, Hong Young Bin, Chung Ki Wha, Choi Byung-Ok

Abstract excerpt

Charcot-Marie-Tooth disease (CMT) is the most common hereditary peripheral neuropathy. Mutations in the neurofilament light polypeptide (NEFL) gene produce diverse clinical phenotypes, including demyelinating (CMT1F), axonal (CMT2E), and intermediate (CMTDIG) neuropathies. From 2005 to 2020, 1,143 Korean CMT families underwent gene sequencing, and we investigated the clinical, genetic, and neuroimaging spectra of...

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PMID: 35044100
DOI: 10.1002/mgg3.1870
PMCID: PMC8830812

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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