Charcot-Marie-Tooth disease type 6

Charcot-Marie-Tooth disease type 6

An autosomal dominant form of Charcot-Marie-Tooth disease (OMIM:601152), which is characterised by primary peripheral axonal neuropathy and optic atrophy.
Molecular pathology
Defects in MFN2, which encodes an essential transmembrane GTPase that mediates mitochondrial fusion, cause Charcot-Marie-Tooth disease type 6.