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Article

Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features.

JAMA neurology - 1 Aug 2014

Bombelli Francesco, Stojkovic Tanya, Dubourg Odile, Echaniz-Laguna Andoni, Tardieu Sandrine, Larcher Kathy, Amati-Bonneau Patrizia, Latour Philippe, Vignal Odile, Cazeneuve Cécile, Brice Alexis, Leguern Eric

Abstract excerpt

IMPORTANCE: Axonal Charcot-Marie-Tooth disease (CMT) is genetically heterogeneous, with 11 genes identified. Axonal CMT has most frequently been associated with mutations in the MFN2 gene (CMT2A). OBJECTIVES: To describe the clinical and molecular features of CMT2A, to delineate prognostic factors, to understand connections between a certain phenotype and more serious clinical consequences, and to identify...

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Source

Identifiers

PMID: 24957169
DOI: 10.1001/jamaneurol.2014.629

Genes

MFN2
GDAP1
OPA1

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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