Hereditary Neuropathy with Liability to Pressure Palsy: A Case Diagnosed with a Quick Multiplex Ligation-dependent Probe Amplification Test

Autor:	Seda Kanmaz, Erdem Şimşek, Hepsen Mine Serin, Murat Kadri Erdoğan, Sanem Yılmaz, Gül Aktan, Hasan Tekgül, Sarenur Gökben
Jazyk:	English<br />Turkish
Rok vydání:	2019
Předmět:	Hereditary neuropathy pressure neuropathy mjultiplex ligation-dependent probe amplification Medicine Pediatrics RJ1-570
Zdroj:	Journal of Pediatric Research, Vol 6, Iss 2, Pp 163-165 (2019)
Druh dokumentu:	article
ISSN:	2147-9445 2587-2478
DOI:	10.4274/jpr.galenos.2018.60590
Popis:	Hereditary neuropathy with a liability to pressure palsies (HNPP) represented by recurrent focal pressure neuropathies is rare in childhood. Here we present a 10-year-old girl admitted to our hospital with a recurrent weakness in her foot and diagnosed as HNPP with a quick Multiplex Ligation-dependent Probe Amplification test revealing PMP22 deletion.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/0da798c745c9412e89c611f728dc5e9a Zobrazit plný text záznamu View record in DOAJ Plný text ve formátu PDF