Megf10 deficiency impairs skeletal muscle stem cell migration and muscle regeneration

Chengcheng Li, Dorianmarie Vargas‐Franco, Madhurima Saha, Rachel M. Davis, Kelsey A. Manko, Isabelle Draper, Christina A. Pacak, Peter B. Kang

Research output: Contribution to journalArticlepeer-review

9 Scopus citations


Biallelic loss-of-function MEGF10 mutations lead to MEGF10 myopathy, also known as early onset myopathy with areflexia, respiratory distress, and dysphagia (EMARDD). MEGF10 is expressed in muscle satellite cells, but the contribution of satellite cell dysfunction to MEGF10 myopathy is unclear. Myofibers and satellite cells were isolated and examined from Megf10−/− and wild-type mice. A separate set of mice underwent repeated intramuscular barium chloride injections. Megf10−/− muscle satellite cells showed reduced proliferation and migration, while Megf10−/− mouse skeletal muscles showed impaired regeneration. Megf10 deficiency is associated with impaired muscle regeneration, due in part to defects in satellite cell function. Efforts to rescue Megf10 deficiency will have therapeutic implications for MEGF10 myopathy and other inherited muscle diseases involving impaired muscle regeneration.

Original languageEnglish (US)
Pages (from-to)114-123
Number of pages10
JournalFEBS Open Bio
Issue number1
StatePublished - Nov 7 2020

Bibliographical note

Funding Information:
This work was supported by NIH R01 NS080929 and the Ferlita Family Fund.

Publisher Copyright:
© 2020 The Authors. FEBS Open Bio published by John Wiley & Sons Ltd on behalf of Federation of European Biochemical Societies.


  • MEGF10 myopathy
  • satellite cells
  • skeletal muscle regeneration

PubMed: MeSH publication types

  • Journal Article
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't


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