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FEBS J. 2013 Sep;280(17):4026-35. doi: 10.1111/febs.12274. Epub 2013 May 7.

Development of the diaphragm -- a skeletal muscle essential for mammalian respiration.

Author information

1
Department of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA.

Abstract

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.

KEYWORDS:

CDH; congenital diaphragmatic hernia; development; diaphragm; muscle; tendon

PMID:
23586979
PMCID:
PMC3879042
DOI:
10.1111/febs.12274
[Indexed for MEDLINE]
Free PMC Article

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