Charcot–Marie–Tooth Disease and Associated Peripheral Neuropathies

Charcot–Marie–Tooth disease (CMT) is a genetically heterogeneous group of inherited peripheral neuropathies that can affect either or both components of peripheral nerves, myelin (glia) and/or axons (neurons), resulting in CMT types 1 and 2. Two mutational mechanisms are relevant: recurrent genomic rearrangements (duplication and deletion) that include a dosage-sensitive myelin gene, PMP22, and point mutations in at least 14 genes important for peripheral nerve development and maintenance. Keywords: genomic disorder; recombination; point mutation; myelin; axon