Charcot-Marie-Tooth disease type 2A2

Charcot-Marie-Tooth disease type 2A2

A form of Charcot-Marie-Tooth disease (OMIM:60926), the most common inherited disorder of the peripheral nervous system, which is divided into two groups based on electrophysiology and histopathology: CMT1 (primary peripheral demyelinating neuropathy) and CMT2 (primary peripheral axonal neuropathy), the latter of which is characterised by signs of axonal regeneration in absence of obvious myelin changes, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.

Molecular pathology
MFN2 defects cause Charcot-Marie-Tooth disease type 2A2.
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