Myophosphorylase (PYGM) mutations determined by next generation sequencing in a cohort from Turkey with McArdle disease.

Güldal Inal-Gültekin,Bahar Toptaş-Hekimoğlu,Zeliha Görmez,Özlem Gelişin,Hacer Durmuş,Bekir Ergüner,Hüseyin Demirci,Mahmut Ş Sağıroğlu,Yeşim Parman,Feza Deymeer,Hülya Yılmaz-Aydoğan,Sadrettin Pençe,Can Ebru Bekircan-Kurt,Ersin Tan,Sevim Erdem-Özdamar,Duran Üstek,Urs Giger,Oğuz Öztürk,Piraye Serdaroğlu-Oflazer

Neuromuscular Disorders（2017）

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摘要

•First report to investigate the molecular variations of McArdle disease in Turkey.•Establishment of a molecular diagnostic algorithm for patients with McArdle disease in Turkey.•Discovery of novel mutations with putative pathogenicity.•Application of next generation sequencing techniques for single gene rare disorders.

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关键词

Glycogenosis,Population specific,Novel mutation,Rare muscle disorders,Molecular screening,Genomics

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