Background. Charcot-Marie-Tooth (CMT) disease is one of the most common hereditary peripheral neuropathies. The main clinical signs of CMT are progressive muscular weakness and loss of sensation in the distal parts of limbs, and its clinical classification depends on whether the main pathological process is axonal or demyelinating. CMT2A is the most common form of axonal peripheral neuropathies due to pathogenic variants of the MFN2 gene. MFN2 encodes a dynamin-like GTPase protein mitofusin-2 and plays a major role in mitochondrial functions.
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