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Article

Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.

Journal of neurology, neurosurgery, and psychiatry - 1 Jul 2017

Horga Alejandro, Laurà Matilde, Jaunmuktane Zane, Jerath Nivedita U, Gonzalez Michael A, Polke James M, Poh Roy, Blake Julian C, Liu Yo-Tsen, Wiethoff Sarah, Bettencourt Conceição, Lunn Michael Pt, Manji Hadi, Hanna Michael G, Houlden Henry, Brandner Sebastian, Züchner Stephan, Shy Michael, Reilly Mary M

Abstract excerpt

OBJECTIVES: To analyse and describe the clinical and genetic spectrum of Charcot-Marie-Tooth disease (CMT) caused by mutations in the neurofilament light polypeptide gene (NEFL). METHODS: Combined analysis of newly identified patients with NEFL-related CMT and all previously reported cases from the literature. RESULTS: Five new unrelated patients with CMT carrying the NEFL mutations P8R and N98S and the novel...

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Identifiers

PMID: 28501821
DOI: 10.1136/jnnp-2016-315077
PMCID: PMC5580821

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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