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Article

The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy.

Neuromuscular disorders : NMD - 1 Feb 2004

Züchner Stephan, Vorgerd Matthias, Sindern Eckhart, Schröder J Michael

Abstract excerpt

Charcot-Marie-Tooth disease comprises a heterogeneous group of hereditary neuropathies which fall into two main groups: demyelinating CMT1 with reduced nerve conduction velocity and axonal CMT2 with normal nerve conduction velocity. The neuropathological features correspond in most cases to this...

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Source

Identifiers

PMID: 14733962
DOI: 10.1016/j.nmd.2003.10.003

Genes

NEFL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14733962-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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