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Article

A novel homozygous nonsense mutation in NEFL causes autosomal recessive Charcot-Marie-Tooth disease.

Neuromuscular disorders : NMD - 1 Jan 2018

Fu Jun, Yuan Yun

Abstract excerpt

The neurofilament light polypeptide (NEFL) gene mutations cause mainly autosomal dominant Charcot-Marie-Tooth disease (CMT) and rarely the recessive forms of CMT. We describe a 13-year-old girl born of consanguineous parents. She presented an early onset of gait disturbance with weakness in lower extremities during the first decade. Nerve conduction velocity of median nerve was 24 m/s and amplitude of compound...

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Identifiers

PMID: 29191368
DOI: 10.1016/j.nmd.2017.09.018

Genes

NEFL

Variants

Provenance

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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