Article
Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2.
Journal of neurology - 1 Jul 2011
McCorquodale Donald S, Montenegro Gladys, Peguero Ainsley, Carlson Nicole, Speziani Fiorella, Price Justin, Taylor Sean W, Melanson Michel, Vance Jeffery M, Züchner Stephan
Abstract excerpt
Charcot-Marie-Tooth (CMT) disease is among the most common inherited neurological disorders. Mutations in the gene mitofusin 2 (MFN2) cause the axonal subtype CMT2A, which has also been shown to be associated with optic atrophy, clinical signs of first motor neuron involvement, and early onset stroke. Mutations in MFN2 account for up to 20-30% of all axonal CMT type 2 cases. To further investigate the prevalence...
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