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Article

The Effect of a Novel c.820C>T (Arg274Trp) Mutation in the Mitofusin 2 Gene on Fibroblast Metabolism and Clinical Manifestation in a Patient.

PloS one - 1 Jan 2017

Beręsewicz Małgorzata, Boratyńska-Jasińska Anna, Charzewski Łukasz, Kawalec Maria, Kabzińska Dagmara, Kochański Andrzej, Krzyśko Krystiana A, Zabłocka Barbara

Abstract excerpt

Charcot-Marie-Tooth disease type 2A (CMT2A) is an autosomal dominant axonal peripheral neuropathy caused by mutations in the mitofusin 2 gene (MFN2). Mitofusin 2 is a GTPase protein present in the outer mitochondrial membrane and responsible for regulation of mitochondrial network architecture via the fusion of mitochondria. As that fusion process is known to be strongly dependent on the GTPase activity of...

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Identifiers

PMID: 28076385
DOI: 10.1371/journal.pone.0169999
PMCID: PMC5226824

Genes

MFN2

Variants

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The Effect of a Novel c.820C>T (Arg274Trp) Mutation in the Mitofusin 2 Gene on Fibroblast Metabolism and Clinical Manifestation in a Patient.PMID 28076385Read ↗

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