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

• 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
• ISSN: 0960-8966; 1873-2364
• DOI: 10.1016/j.nmd.2017.05.014

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 very end of C terminal (c.9586C>T, p.Arg3196*), the patient developed a dilated cardiomyopathy but so far mildest skeletal muscle phenotype • Whole body MRI was done to assess the involvement of different skeletal muscle groups