Neuromuscul Disord. 2002 Oct;12(7-8):651-5.

Hereditary neuropathy with liability to pressure palsies with a small deletion interrupting the PMP22 gene.

van de Wetering RA, Gabreëls-Festen AA, Timmerman V, Padberg GM, Gabreëls FJ, Mariman EC.

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Institute of Neurology, University Medical Centre Nijmegen, Nijmegen, The Netherlands

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.

PMID:: 12207933; [PubMed - indexed for MEDLINE]

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A family with a novel frameshift mutation in the PMP22 gene (c.433_434insC) causing a phenotype of hereditary neuropathy with liability to pressure palsies. [Neuromuscul Disord. 2005]
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