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  • Title: Hereditary neuropathy with liability to pressure palsies with a small deletion interrupting the PMP22 gene.
    Author: van de Wetering RA, Gabreëls-Festen AA, Timmerman V, Padberg GM, Gabreëls FJ, Mariman EC.
    Journal: Neuromuscul Disord; 2002 Oct; 12(7-8):651-5. PubMed ID: 12207933.
    Abstract:
    Hereditary neuropathy with liability to pressure palsies is associated with a deficiency in the Peripheral Myelin Protein 22 (PMP22). Most hereditary neuropathy with liability to pressure palsies cases are caused by a deletion of a 1.5 Mb region on chromosome 17p11.2-12 encompassing the PMP22 gene. We describe a hereditary neuropathy with liability to pressure palsies family that lacks the common deletion, but carries a small deletion spanning the 3' region of the PMP22 gene, causing only a partial deletion of one copy of the gene.
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