J Korean Neurol Assoc.
2005 Jun;23(3):411-414.
A Family of Hereditary Neuropathy with Liability to Pressure Palsy Presenting Atypical Electrophysiological Features
- Affiliations
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- 1Department of Neurology, Ewha Womans University College of Medicine, Seoul, Korea. pkd1165@ewha.ac.kr
Abstract
- We report a 15-year-old girl with hereditary neuropathy with liability to pressure palsy (HNPP), whose electrophysiological features mimicked Charcot-Marie-Tooth disease 1A. Her mother was asymptomatic, but a nerve conduction study was compatible with HNPP. Molecular analysis confirmed the deletion of chromosome 17p11.2 in both patients. Our case suggests that HNPP has more diverse electrophysiological features than reported so far.
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