Charcot-Marie-Tooth disease type 6

(redirected from autosomal dominant hereditary motor and sensory neuropathy VI)

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.
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