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


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2011-12

AUTHORS

Clare V Logan, 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. More... »

PAGES

1189

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng.995

DOI

http://dx.doi.org/10.1038/ng.995

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1028543978

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/22101682


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