Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2002 Oct;12(7-8):651-5.
doi: 10.1016/s0960-8966(02)00025-1.

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

R A C van de Wetering  1 , A A W M Gabreëls-Festen, V Timmerman, G M Padberg, F J M Gabreëls, E C M Mariman
Affiliations
Case Reports

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

R A C van de Wetering et al. Neuromuscul Disord. 2002 Oct.

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.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

Publication types

LinkOut - more resources