Clinical, neurophysiological and pathological findings of HNPP patients with 17p12 deletion: A single-centre experience
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- 作者：Marco Luigettia ; mluigetti@gmail.com" class="auth_mail ; Alessandra Del Grandea ; Amelia Contea ; Mauro Lo Monacoa ; Giulia Bisognia ; Angela Romanoa ; Marcella Zollinob ; Paolo Maria Rossinia ; c ; d ; Mario Sabatellia
- 关键词：Hereditary neuropathy with liability to pressure palsies (HNPP) ; Neurophysiology ; Clinical phenotype ; Sural nerve biopsy ; Inherited neuropathy ; Tomaculae
- 刊名：Journal of the Neurological Sciences
- 出版年：15 June 2014
- 年：2014
- 卷：341
- 期：1-2
- 页码：46-50
- 全文大小：416 K
文摘
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Clinical manifestations of HNPP are characterized by recurrent painless mononeuropathies.
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A high proportion of patients with HNPP disclose an atypical clinical presentation.
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Nerve conduction studies represent the main tool for a correct diagnosis of HNPP.