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., ...Daha Fazla

NEUROMUSCULAR DISORDERS, cilt.27, sa.9, ss.836-842, 2017 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 27 Sayı: 9
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1016/j.nmd.2017.05.014
  • Dergi Adı: NEUROMUSCULAR DISORDERS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.836-842
  • Anahtar Kelimeler: SPEG, Exome, Centronuclear myopathy, Myotubular myopathy, Whole body MRI, GENE
  • Çukurova Üniversitesi Adresli: Evet

Özet

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.