| Literature DB >> 22101682 |
Clare V Logan1, Barbara Lucke, Caroline Pottinger, Zakia A Abdelhamed, David A Parry, Katarzyna Szymanska, Christine P Diggle, Anne van Riesen, Joanne E Morgan, Grace Markham, Ian Ellis, Adnan Y Manzur, Alexander F Markham, Mike Shires, Tim Helliwell, Mariacristina Scoto, Christoph Hübner, David T Bonthron, Graham R Taylor, Eamonn Sheridan, Francesco Muntoni, Ian M Carr, Markus Schuelke, Colin A Johnson.
Abstract
Infantile myopathies with diaphragmatic paralysis are genetically heterogeneous, and clinical symptoms do not assist in differentiating between them. We used phased haplotype analysis with subsequent targeted exome sequencing to identify MEGF10 mutations in a previously unidentified type of infantile myopathy with diaphragmatic weakness, areflexia, respiratory distress and dysphagia. MEGF10 is highly expressed in activated satellite cells and regulates their proliferation as well as their differentiation and fusion into multinucleated myofibers, which are greatly reduced in muscle from individuals with early onset myopathy, areflexia, respiratory distress and dysphagia.Entities:
Mesh：
Substances：
Year: 2011 PMID： 22101682 DOI： 10.1038/ng.995
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330