遗传性压力易感性周围神经病
Hereditary Neuropathy with Liability to Pressure Palsies.
作者信息
Choi Hyoung Won, Kuntz Nancy L
机构信息
Division of Neurology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL; Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL.
出版信息
Pediatr Neurol Briefs. 2015 Nov;29(11):83. doi: 10.15844/pedneurbriefs-29-11-2.
Abstract
Investigators from 4 pediatric hospitals in Canada analyzed the clinical presentation and electrophysiological data of 12 children with hereditary neuropathy with liability to pressure palsies (HNPP), caused by PMP22 gene deletion.
摘要
加拿大4家儿科医院的研究人员分析了12名因PMP22基因缺失导致的遗传性压力易感性周围神经病（HNPP）患儿的临床表现和电生理数据。
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Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy.早发性压力性麻痹易患遗传性神经病的临床、电生理及分子学研究结果
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DNA deletion associated with hereditary neuropathy with liability to pressure palsies.与遗传性压力易感性周围神经病相关的DNA缺失。
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