Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathy.


Wang H., Castiglioni C., Kaçar B., Fattori F., Pekuz S., Araneda D., ...More

Neuromuscular disorders : NMD, vol.27, pp.836-842, 2017 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 27
  • Publication Date: 2017
  • Doi Number: 10.1016/j.nmd.2017.05.014
  • Journal Name: Neuromuscular disorders : NMD
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.836-842
  • Keywords: SPEG, Exome, Centronuclear myopathy, Myotubular myopathy, Whole body MRI, GENE
  • Erciyes University Affiliated: Yes