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

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-depende...

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Main Authors:	Seda Kanmaz, Erdem Şimşek, Hepsen Mine Serin, Murat Kadri Erdoğan, Sanem Yılmaz, Gül Aktan, Hasan Tekgül, Sarenur Gökben
Format:	Article
Language:	English
Published:	Galenos Yayinevi 2019-06-01
Series:	Journal of Pediatric Research
Subjects:	Hereditary neuropathy pressure neuropathy mjultiplex ligation-dependent probe amplification
Online Access:	http://jpedres.org/archives/archive-detail/article-preview/hereditary-neuropathy-with-liability-to-pressure-p/27910

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spelling	doaj-0da798c745c9412e89c611f728dc5e9a2020-11-25T01:02:28ZengGalenos YayineviJournal of Pediatric Research2147-94452587-24782019-06-016216316510.4274/jpr.galenos.2018.6059013049054Hereditary Neuropathy with Liability to Pressure Palsy: A Case Diagnosed with a Quick Multiplex Ligation-dependent Probe Amplification TestSeda Kanmaz0Erdem Şimşek1Hepsen Mine Serin2Murat Kadri Erdoğan3Sanem Yılmaz4Gül Aktan5Hasan Tekgül6Sarenur Gökben7 Ege University Faculty of Medicine, Department of Pediatrics, Division of Child Neurology, İzmir, Turkey Ege University Faculty of Medicine, Department of Pediatrics, Division of Child Neurology, İzmir, Turkey Ege University Faculty of Medicine, Department of Pediatrics, Division of Child Neurology, İzmir, Turkey University of Health Sciences, Tepecik Training and Research Hospital, Clinic of Medical Genetics, İzmir, Turkey Ege University Faculty of Medicine, Department of Pediatrics, Division of Child Neurology, İzmir, Turkey Ege University Faculty of Medicine, Department of Pediatrics, Division of Child Neurology, İzmir, Turkey Ege University Faculty of Medicine, Department of Pediatrics, Division of Child Neurology, İzmir, Turkey Ege University Faculty of Medicine, Department of Pediatrics, Division of Child Neurology, İzmir, Turkey 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. http://jpedres.org/archives/archive-detail/article-preview/hereditary-neuropathy-with-liability-to-pressure-p/27910 Hereditary neuropathypressure neuropathymjultiplex ligation-dependent probe amplification
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Seda Kanmaz Erdem Şimşek Hepsen Mine Serin Murat Kadri Erdoğan Sanem Yılmaz Gül Aktan Hasan Tekgül Sarenur Gökben
spellingShingle	Seda Kanmaz Erdem Şimşek Hepsen Mine Serin Murat Kadri Erdoğan Sanem Yılmaz Gül Aktan Hasan Tekgül Sarenur Gökben Hereditary Neuropathy with Liability to Pressure Palsy: A Case Diagnosed with a Quick Multiplex Ligation-dependent Probe Amplification Test Journal of Pediatric Research Hereditary neuropathy pressure neuropathy mjultiplex ligation-dependent probe amplification
author_facet	Seda Kanmaz Erdem Şimşek Hepsen Mine Serin Murat Kadri Erdoğan Sanem Yılmaz Gül Aktan Hasan Tekgül Sarenur Gökben
author_sort	Seda Kanmaz
title	Hereditary Neuropathy with Liability to Pressure Palsy: A Case Diagnosed with a Quick Multiplex Ligation-dependent Probe Amplification Test
title_short	Hereditary Neuropathy with Liability to Pressure Palsy: A Case Diagnosed with a Quick Multiplex Ligation-dependent Probe Amplification Test
title_full	Hereditary Neuropathy with Liability to Pressure Palsy: A Case Diagnosed with a Quick Multiplex Ligation-dependent Probe Amplification Test
title_fullStr	Hereditary Neuropathy with Liability to Pressure Palsy: A Case Diagnosed with a Quick Multiplex Ligation-dependent Probe Amplification Test
title_full_unstemmed	Hereditary Neuropathy with Liability to Pressure Palsy: A Case Diagnosed with a Quick Multiplex Ligation-dependent Probe Amplification Test
title_sort	hereditary neuropathy with liability to pressure palsy: a case diagnosed with a quick multiplex ligation-dependent probe amplification test
publisher	Galenos Yayinevi
series	Journal of Pediatric Research
issn	2147-9445 2587-2478
publishDate	2019-06-01
description	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.
topic	Hereditary neuropathy pressure neuropathy mjultiplex ligation-dependent probe amplification
url	http://jpedres.org/archives/archive-detail/article-preview/hereditary-neuropathy-with-liability-to-pressure-p/27910
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Hereditary Neuropathy with Liability to Pressure Palsy: A Case Diagnosed with a Quick Multiplex Ligation-dependent Probe Amplification Test

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