Article
Myophosphorylase (PYGM) mutations determined by next generation sequencing in a cohort from Turkey with McArdle disease.
Neuromuscular disorders : NMD - 1 Nov 2017
Inal-Gültekin Güldal, Toptaş-Hekimoğlu Bahar, Görmez Zeliha, Gelişin Özlem, Durmuş Hacer, Ergüner Bekir, Demirci Hüseyin, Sağıroğlu Mahmut Ş, Parman Yeşim, Deymeer Feza, Yılmaz-Aydoğan Hülya, Pençe Sadrettin, Bekircan-Kurt Can Ebru, Tan Ersin, Erdem-Özdamar Sevim, Üstek Duran, Giger Urs, Öztürk Oğuz, Serdaroğlu-Oflazer Piraye
Abstract excerpt
This study aimed to identify PYGM mutations in patients with McArdle disease from Turkey by next generation sequencing (NGS). Genomic DNA was extracted from the blood of the McArdle patients (n = 67) and unrelated healthy volunteers (n = 53). The PYGM gene was sequenced with NGS and the observed mutations were validated by direct Sanger sequencing. A diagnostic algorithm was developed for patients with suspected...
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