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Article

Axonal Transport Defects in a Mitofusin 2 Loss of Function Model of Charcot-Marie-Tooth Disease in Zebrafish.

PloS one - 1 Jan 2013

Chapman Anna L, Bennett Ellen J, Ramesh Tennore M, De Vos Kurt J, Grierson Andrew J

Abstract excerpt

Charcot-Marie-Tooth disease (CMT) represents a group of neurodegenerative disorders typically characterised by demyelination (CMT1) or distal axon degeneration (CMT2) of motor and sensory neurons. The majority of CMT2 cases are caused by mutations in mitofusin 2 (MFN2); an essential gene encoding a protein responsible for fusion of the mitochondrial outer membrane. The mechanism of action of MFN2 mutations is...

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Identifiers

PMID: 23840650
DOI: 10.1371/journal.pone.0067276
PMCID: PMC3694133

Genes

MFN2

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