Article
Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathy.
Neuromuscular disorders : NMD - 1 Sept 2017
Wang Haicui, Castiglioni Claudia, Kaçar Bayram Ayşe, Fattori Fabiana, Pekuz Serdar, Araneda Diego, Per Hüseyin, Erazo Ricardo, Gümüş Hakan, Zorludemir Suzan, Becker Kerstin, Ortega Ximena, Bevilacqua Jorge Alfredo, Bertini Enrico, Cirak Sebahattin
Abstract excerpt
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...
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