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

@article{nalGltekin2017MyophosphorylaseM,
  title={Myophosphorylase (PYGM) mutations determined by next generation sequencing in a cohort from Turkey with McArdle disease.},
  author={G{\"u}ldal İnal-G{\"u}ltekin and Bahar Toptaş-Hekimoğlu and Zeliha G{\"o}rmez and {\"O}zlem Gelişin and Hacer Durmuş and Bekir Erg{\"u}ner and H{\"u}seyin Demirci and Mahmut Şamil Sağıroğlu and Yeşim G Parman and Feza Deymeer and H{\"u}lya Yılmaz-Aydoğan and Sadrettin Pençe and Can Ebru Bekircan-Kurt and Ersin Tan and Sevim Erdem-{\"O}zdamar and Duran {\"U}stek and Urs Giger and Oğuz {\"O}zt{\"u}rk and Piraye Serdaroğlu-Oflazer},
  journal={Neuromuscular disorders : NMD},
  year={2017},
  volume={27 11},
  pages={
          997-1008
        }
}
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 McArdle disease. A total of 16 deleterious PYGM mutations were identified, of which… CONTINUE READING
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