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Article

A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.

Annals of neurology - 1 Dec 2009

Yum Sabrina W, Zhang Junxian, Mo Katie, Li Jian, Scherer Steven S

Abstract excerpt

OBJECTIVE: To report the first cases of a homozygous recessive mutation in NEFL, the gene that encodes the light subunit of neurofilaments. METHODS: Clinical and electrophysiologic data were evaluated, and a sural nerve biopsy from one affected child was examined by immunohistochemistry and electron microscopy. The ability of the mutant protein to form filaments was characterized in an established cell culture...

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Identifiers

PMID: 20039262
DOI: 10.1002/ana.21728
PMCID: PMC4439312

Genes

NEFL

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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