Charcot Marie Tooth 2A

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Charcot Marie Tooth Disease type 2A can be caused by mutations in mitofusin 2 (MFN2), which encodes for a mitochondrial membrane protein involved in mitochondrial fusion. Other subgroups of CMT, including CMT with optic atrophy, pyrimidal tract disease, or cerebral white matter disease, can also be caused by mutations in MFN2 (Ouvrier et al., Dev Med Child Neurol, 2010 Apr;52(4):328-30.).

Abnormalities in mitochondrial fusion and fission are a fascinating mechanism for human disease, and I  think we are only beginning to scratch the surface of disorders involved in this mechanism.

Hilary Vernon, MD PhD

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