Distinct disease mechanisms in peripheral neuropathies due to altered <ce:italic>peripheral myelin protein 22</ce:italic> gene dosage or a <ce:italic>Pmp22</ce:italic> point mutation

@article{GiamboniniBrugnoli2005DistinctDM,
  title={Distinct disease mechanisms in peripheral neuropathies due to altered <ce:italic>peripheral myelin protein 22</ce:italic> gene dosage or a <ce:italic>Pmp22</ce:italic> point mutation},
  author={Guya Giambonini-Brugnoli and Johanna Buchstaller and Lukas Sommer and Ueli Suter and Ned Mantei},
  journal={Neurobiology of Disease},
  year={2005},
  volume={18},
  pages={656-668}
}
Point mutations affecting PMP22 can cause hereditary demyelinating and dysmyelinating peripheral neuropathies. In addition, duplication and deletion of PMP22 are associated with Charcot–Marie–Tooth disease Type 1A (CMT1A) and Hereditary Neuropathy with Liability to Pressure Palsy (HNPP), respectively. This study was designed to elucidate disease processes caused by misexpression of Pmp22 and, at the same time, to gain further information on the controversial molecular function of PMP22. To this… CONTINUE READING

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