Charcot-Marie-Tooth Disease, Axonal, Type 2ee (CMT2EE)

Charcot-Marie-Tooth Disease, Axonal, Type 2ee, also known as cmt2ee, is related to mitochondrial dna depletion syndrome 2 and mitochondrial dna depletion syndrome. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2ee is MPV17 (Mitochondrial Inner Membrane Protein MPV17), and among its related pathways/superpathways are Complex I biogenesis and Mitochondrial complex III assembly. Affiliated tissues include liver and skeletal muscle, and related phenotypes are increased csf lactate and peripheral axonal neuropathy