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Article

Novel mitofusin 2 splice-site mutation causes Charcot-Marie-Tooth disease type 2 with prominent sensory dysfunction.

Neuromuscular disorders : NMD - 1 Apr 2014

Martikainen Mika H, Kytövuori Laura, Majamaa Kari

Abstract excerpt

MFN2 mutations are a major cause of the axonal form of Charcot-Marie-Tooth disease (CMT2). MFN2 encodes mitofusin 2, a mitochondrial fusion protein that is critical for mitochondrial DNA integrity and function. Here we describe CMT2 in a Finnish man and his son, with disease onset in young adulthood, slow progression, and prominent sensory as well as autonomic dysfunction. Molecular analysis revealed in both...

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Identifiers

PMID: 24530046
DOI: 10.1016/j.nmd.2014.01.007

Genes

MFN2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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