Hereditary Neuropathy with Liability to Pressure Palsy: A Case Diagnosed with a Quick Multiplex Ligation-dependent Probe Amplification Test
Makaleler > Tam Makale · 2019
Yazarlar: Seda KANMAZ, ERDEM ŞİMŞEK, Hepsen Mine SERİN, Murat Kadri Erdoğan, Sanem KESKİN YILMAZ, GÜL AKTAN, Hasan TEKGÜL, SARENUR GÖKBEN
JOURNAL OF PEDIATRIC RESEARCH, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2019, cilt 6, ss 163-165
DOI: 10.4274/jpr.galenos.2018.60590
Özet
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.