Browsing by Author "2cab583e-4127-4913-af84-d8ca24a517cb"

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    • Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathy 
      Wang, Haicui; Castiglioni, Claudia; Bayram, Ayse Kacar; Fattori, Fabiana; Pekuz, Serdar; Araneda, Diego; Per, Huseyin; Erazo, Ricardo; Gumus, Hakan; Zorludemir, Suzan; Becker, Kerstin; Ortega, Ximena; Bevilacqua, Jorge; Bertini, Enrico; Cirak, Sebahattin (Elsevier, 2017)
      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 ...