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

Highlights • Two novel SPEG mutations in 2 unrelated patients with CNM • One frame shit (c.1627-1628insA, p.Thr544Aspfs*48) mutation resulted in short N-terminal truncated protein, links to a mild manifestation of CNM, without cardiomyopathy • One missense mutation resulted in a stop mutation in the...

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Bibliographic Details
Published in:	Neuromuscular disorders : NMD Vol. 27; no. 9; pp. 836 - 842
Main Authors:	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
Format:	Journal Article
Language:	English
Published:	England Elsevier B.V 01-09-2017
Subjects:	Centronuclear myopathy Child Child, Preschool Exome Genetic Association Studies Humans Magnetic Resonance Imaging Male Muscle Proteins - genetics Muscle, Skeletal - diagnostic imaging Muscle, Skeletal - physiopathology Mutation - genetics Myopathies, Structural, Congenital - diagnostic imaging Myopathies, Structural, Congenital - etiology Myopathies, Structural, Congenital - genetics Myopathies, Structural, Congenital - pathology Myotubular myopathy Neurology Phenotype Protein-Serine-Threonine Kinases - genetics SPEG Whole body MRI centronuclear myopathy SPEG exome myotubular myopathy whole body MRI Exome Myotubular myopathy Centronuclear myopathy Whole body MRI
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