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.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Child
  • Child, Preschool
  • Consanguinity
  • Deglutition Disorders / genetics*
  • Deltoid Muscle / pathology
  • Female
  • Frameshift Mutation
  • Genetic Association Studies
  • Heredity
  • Humans
  • INDEL Mutation
  • Infant
  • Infant, Newborn
  • Male
  • Membrane Proteins / genetics*
  • Muscle Development / genetics
  • Muscular Diseases / genetics*
  • Mutation, Missense
  • Pedigree
  • Respiratory Distress Syndrome, Newborn / genetics*
  • Satellite Cells, Skeletal Muscle / metabolism*
  • Sequence Analysis, DNA


  • MEGF10, human
  • Membrane Proteins