A novel mitofusin 2 MFN2 gene mutation causing early onset Charcot-Marie-Tooth 2A disease: Genetic, clinical and MR spectroscopy characterization

V Casanova,Elena Carraro,M L Mostacciuolo,G Aghakhanyan,Francesca Frijia,D Montanaro,Andrea Martinuzzi,M Vavla

Journal of the Neurological Sciences（2013）

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摘要

Background: Mitofusin 2 (MFN2) mutations are associated with axonal peripheral neuropathies known as Charcot-Marie-Tooth 2A (CMT2A). Even though central nervous system (CNS) involvement has been described in CMT2A, there are as to now no advanced neuroimaging study of patients with MFN2 mutations.

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Charcot-Marie-Tooth Disease

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