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Article

Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.

Brain : a journal of neurology - 1 Jan 2016

Sevilla Teresa, Lupo Vincenzo, Martínez-Rubio Dolores, Sancho Paula, Sivera Rafael, Chumillas María J, García-Romero Mar, Pascual-Pascual Samuel I, Muelas Nuria, Dopazo Joaquín, Vílchez Juan J, Palau Francesc, Espinós Carmen

Abstract excerpt

Charcot-Marie-Tooth disease (CMT) is a complex disorder with wide genetic heterogeneity. Here we present a new axonal Charcot-Marie-Tooth disease form, associated with the gene microrchidia family CW-type zinc finger 2 (MORC2). Whole-exome sequencing in a family with autosomal dominant segregation identified the novel MORC2 p.R190W change in four patients. Further mutational screening in our axonal...

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Identifiers

PMID: 26497905
DOI: 10.1093/brain/awv311

Genes

MORC2

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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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