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The peripheral myelin protein gene PMP–22 is contained within the Charcot–Marie–Tooth disease type 1A duplication

✍ Scribed by Timmerman, V.; Nelis, E.; Van Hul, W.; Nieuwenhuijsen, B.W.; Chen, K.L.; Wang, S.; Othman, K. Ben; Cullen, B.; Leach, R.J.; Hanemann, C.O.


Book ID
109916176
Publisher
Nature Publishing Group
Year
1992
Tongue
English
Weight
670 KB
Volume
1
Category
Article
ISSN
1061-4036

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Peripheral myelin protein-22 expression
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Peripheral myelin protein-22 (PMP22) is expressed in myelinating Schwann cells and shows significant homology to murine growth arrest-specific gene gas3. Charcot-Marie-Tooth disease type l a (CMTla) is a common hereditary demyelinating neuropathy. Recently it was demonstrated that the gene for PMP22

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The two most common subtypes of Charcot-Marie-Tooth (CMT) disease are CMT1A and CMTX1. To determine whether these different genetic entities display different morphological phenotypes we compared sural nerve biopsies of CMT1A patients due to PMP22 duplication with biopsies of CMTX1 patients with pro