Beschreibung:
Charcot–Marie–Tooth disease is the most common inherited neuropathy and a duplication of the peripheral myelin protein 22 gene (PMP22) causes the most frequent sub-form Charcot–Marie–Tooth 1A (CMT1A). In contrary to the notion that CMT1A manifests in the second decade of life, moderate walking disability and electrophysiological abnormalities are usually already present during childhood. The early onset and developmental nature of the disease is also supported by findings derived from a Pmp22 transgenic rat model for CMT1A (CMT rat), which displays a reduced number of myelinated fibers per ...