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Article

NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype.

Journal of neurology - 1 Feb 2016

Berciano José, Peeters Kristien, García Antonio, López-Alburquerque Tomás, Gallardo Elena, Hernández-Fabián Arantxa, Pelayo-Negro Ana L, De Vriendt Els, Infante Jon, Jordanova Albena

Abstract excerpt

The purpose of this study was to describe a pedigree with NEFL N98S mutation associated with a dominant intermediate Charcot-Marie-Tooth disease (DI-CMT) and heterogeneous early-onset phenotype. The pedigree comprised two patients, the proband and her son, aged 38 and 5 years. The proband, evaluated at age 31, showed delayed motor milestones that, as of the second decade, evolved into severe phenotype consisting...

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Identifiers

PMID: 26645395
DOI: 10.1007/s00415-015-7985-z

Genes

NEFL

Variants

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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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