2. Academic Validation
  3. Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

  • Nat Genet. 2011 Nov 20;43(12):1189-92. doi: 10.1038/ng.995.
Clare V Logan 1,  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
Affiliations

Affiliation

  • 1 Leeds Institute of Molecular Medicine, The University of Leeds, UK.
PMID: 22101682 DOI: 10.1038/ng.995
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.

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