Journal
FEBS JOURNAL
Volume 280, Issue 17, Pages 4026-4035Publisher
WILEY-BLACKWELL
DOI: 10.1111/febs.12274
Keywords
CDH; congenital diaphragmatic hernia; development; diaphragm; muscle; tendon
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Funding
- March of Dimes
- NICHD/NIH grants
- University of Utah Graduate Research Fellowship
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The mammalian diaphragm muscle is essential for respiration, and thus is one of the most critical skeletal muscles in the human body. Defects in diaphragm development leading to congenital diaphragmatic hernias (CDH) are common birth defects and result in severe morbidity or mortality. Given its functional importance and the frequency of congenital defects, an understanding of diaphragm development, both normally and during herniation, is important. We review current knowledge of the embryological origins of the diaphragm, diaphragm development and morphogenesis, as well as the genetic and developmental aetiology of diaphragm birth defects.
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