Mol Genet Genomic Med 2022 02 19;10(2):e1870. Epub 2022 Jan 19.
Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Seoul, Korea.
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 NEFL-related CMT patients. Read More