Abstract
Charcot–Marie–Tooth disease (CMT1) is the most common form of inherited peripheral neuropathy. Although the disease is genetically heterogeneous, it has been demonstrated that the gene defect in the most frequent type (CMT1A) is the result of a partial duplication of band 17p11.2. Recent studies suggested that the peripheral hypomyelination syndrome in the trembler (Tr) mouse, a possible animal model for CMT1 disease, is associated with a point mutation in the peripheral myelin protein–22 gene (pmp–22). Expression of pmp–22 is particularly high in Schwann cells, and the protein is found in peripheral myelin. We now report that the human PMP–22 gene is contained within the CMT1A duplication. We therefore, suggest that increased dosage of the PMP–22 gene may be the cause of CMT1A neuropathy.
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Timmerman, V., Nelis, E., Van Hul, W. et al. The peripheral myelin protein gene PMP–22 is contained within the Charcot–Marie–Tooth disease type 1A duplication. Nat Genet 1, 171–175 (1992). https://doi.org/10.1038/ng0692-171
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DOI: https://doi.org/10.1038/ng0692-171
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