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Article

Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype.

Journal of human genetics - 1 Feb 2009

Abe Akiko, Numakura Chikahiko, Saito Kayoko, Koide Hiroyoshi, Oka Nobuyuki, Honma Akira, Kishikawa Yumiko, Hayasaka Kiyoshi

Abstract excerpt

The neurofilament light chain polypeptide (NEFL) forms the major intermediate filament in neurons and axons. NEFL mutation is a cause of axonal or demyelinating forms of dominant Charcot-Marie-Tooth disease (CMT). We investigated NEFL in 223 Japanese CMT patients who were negative for PMP22, MPZ, GJB1, LITAF, EGR2, GDAP1, MTMR2 and PRX in the demyelinating form and negative for MFN2, MPZ, GJB1, HSP27, HSP22 and...

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Source

Identifiers

PMID: 19158810
DOI: 10.1038/jhg.2008.13

Genes

NEFL
GJB1
MPZ
EGR2
GDAP1
LITAF
MFN2
MTMR2
PMP22
PRX

Provenance

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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