학술논문
193 Herediter Bas›nca Duyarl› Nöropati: Dört Ailenin Klinik ve Elektrofizyolojik Özellikleri* .
Document Type
Article
Source
Subject
*CHARCOT-Marie-Tooth disease
*ELECTROPHYSIOLOGY
*FAMILIES
*PARALYSIS
*POLYNEUROPATHIES
*PRESSURE
*DIAGNOSIS
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Language
ISSN
1301-062X
Abstract
Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant disorder characterized by acute, painless and recurrent mononeuropathies that are secondary to minor trauma or compression. Diagnosis is often overlooked when detailed examinations are not performed. We discuss the features of our four HNPP patients and their close relatives in order to emphasize the importance of clinical and electrophysiological findings in the diagnosis of HNPP. Four patients and three members of the family underwent genetic testing and HBDN deletion was shown in all. [ABSTRACT FROM AUTHOR]