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

Clare V. Logan, Barbara Lucke, Caroline Pottinger, Zakia A. Abdelhamed, David A. Parry, Katarzyna Szymanska, Christine P. Diggle, Anne V. 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 SheridanFrancesco Muntoni, Ian M. Carr, Markus Schuelke, Colin A. Johnson*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)1189-1193
Number of pages5
JournalNature Genetics
Volume43
Issue number12
DOIs
Publication statusPublished - 1 Dec 2011

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