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

Wang, Haicui; Castiglioni, Claudia; Bayram, Ayse; Fattori, Fabiana; Pekuz, Serdar; Araneda, Diego; PER, HÜSEYİN; Erazo, Ricardo; GÜMÜŞ, HAKAN; ZORLUDEMİR, SUZAN; Becker, Kerstin; Ortega, Ximena; Alfredo Bevilacqua, Jorge; Bertini, Enrico; Cirak, Sebahattin

doi:10.1016/j.nmd.2017.05.014

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, Scopus)

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.