Hereditary Neuropathy with Liability to Pressure Palsy: The Clinical and Electrophysiological Features of Four Families

Autor:	Ayşe Oytun Bayrak, Esra Battaloğlu, Handan Akar, İbrahim Barış, Musa Kazım Onar
Jazyk:	angličtina
Rok vydání:	2010
Předmět:	Neuropathy hereditary liability to pressure palsies electrophysiology Medicine Neurology. Diseases of the nervous system RC346-429
Zdroj:	Türk Nöroloji Dergisi, Vol 16, Iss 4, Pp 193-198 (2010)
Druh dokumentu:	article
ISSN:	1301-062X 1309-2545
Popis:	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
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/e886fa9a106a4eb3b2299d2595304cd1 Zobrazit plný text záznamu View record in DOAJ