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

Wang H., Castiglioni C., Bayram A. K., Fattori F., Pekuz S., Araneda D., ...More

NEUROMUSCULAR DISORDERS, vol.27, no.9, pp.836-842, 2017 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 27 Issue: 9
  • Publication Date: 2017
  • Doi Number: 10.1016/j.nmd.2017.05.014
  • 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
  • Çukurova University Affiliated: Yes


Centronuclear myopathies (CNM) are a clinically and genetically heterogeneous group of congenital myopathies, defined histologically by increased number of fibres with centrally located nuclei, and type I fibre predominance in muscle biopsy. Myotubular myopathy, the X-linked form of CNM caused by mutations in the phosphoinositide phosphatase MTM1, is histologically characteristic since muscle fibres resemble myotubes.