. 2019; 6(2): 163-165 | |||
Hereditary Neuropathy with Liability to Pressure Palsy: A case diagnosed with a quick MLPA testSeda Kanmaz1, Erdem Şimşek1, Hepsen Mine Serin1, Murat Kadri Erdoğan2, Sanem Yılmaz1, Gül Aktan1, Hasan Tekgül1, Sarenur Gökben11Department Of Pediatrics, Division Of Child Neurology, Ege University Medical Faculty, Izmir, Turkey2Department of Medical Genetics, T.C. Ministry of Health Tepecik Education and Research Hospital, Izmir, Turkey Hereditary neuropathy with liability to pressure palsies (HNPP) characterized by repeated focal pressure neuropathies is rare in childhood. Here we present a 10-year-old girl admitted to our hospital with recurrent weakness in her foot and diagnosed as HNPP with a quick Multiplex Ligation-dependent Probe Amplification (MLPA) test showed PMP 22 deletion. Keywords: Hereditary neuropathy, Pressure neuropathy, Multiplex Ligation-dependent Probe AmplificationSeda 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 MLPA test. . 2019; 6(2): 163-165 Corresponding Author: Seda Kanmaz, Türkiye |
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