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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Galenos Yayinevi
2019-06-01
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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
|
work_keys_str_mv |
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