A Family of Hereditary Neuropathy with Liability to Pressure Palsy Presenting Atypical Electrophysiological Features
Journal of the Korean neurological association(2005)
摘要
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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关键词
electro- diagnosis,hereditary neuropathy with liability to pressure palsy,charcot-marie-tooth disease 1a
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