What is the pathophysiology of Charcot-Marie-Tooth type 2 (CMT2)?

Updated: May 22, 2018
  • Author: Timothy C Parsons, MD; Chief Editor: Nicholas Lorenzo, MD, MHA, CPE  more...
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Answer

The most common mutation responsible for CMT2 has been found in the mitochondrial GTPase mitofusin 2 (MFN2) gene. [49] This is referred to as CMT2A.

MFN2 is a dynamin family GTPase that spans the outer mitochondrial membrane and is believed to primarily be involved in mitochondrial docking, tethering, and fusion. Recent data were supportive of a mitochondrial trafficking insult as a possible mechanism of length-dependent axonal neuropathy. [50, 51]


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