Charcot-Marie-Tooth Disease Type 2a2b

Charcot-Marie-Tooth Disease Type 2a2b, also known as severe early-onset axonal neuropathy due to mfn2 deficiency, is related to charcot-marie-tooth disease, axonal, autosomal recessive, type 2a2b and distal hereditary motor neuronopathy type 2b. An important gene associated with Charcot-Marie-Tooth Disease Type 2a2b is MFN2 (Mitofusin 2), and among its related pathways/superpathways are Mitophagy and Intracellular trafficking proteins involved in CMT neuropathy. Related phenotypes are nervous system and mortality/aging