Browsing by Author "e9f8b8d3-3f9b-43c8-81bd-d12ef09f4fa2"
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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 ...