The most common cause of Charcot-Marie-Tooth Syndrome Type 2A (CMT 2A) is a genetic error, or mutation, in the sequence of the mitofusion 2 gene. Mitofusion 2 is a protein that plays an essential role in the function of mitochondria which generate energy in cells. In those individuals with a mitofusion 2 mutation, the energy produced by neuronal mitochondria is insufficient to sustain axons. As a consequence, axonal degeneration gradually occurs, causing slowly progressive weakness.
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