Department of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA.
FEBS J. 2013 Sep;280(17):4026-35. doi: 10.1111/febs.12274. Epub 2013 May 7.
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.
哺乳动物的膈肌对于呼吸至关重要,因此是人体最重要的骨骼肌之一。导致先天性膈疝 (CDH) 的膈肌发育缺陷是常见的先天性缺陷,会导致严重的发病率或死亡率。鉴于其功能重要性和先天性缺陷的频率,了解正常和疝出时的膈肌发育非常重要。我们回顾了膈肌的胚胎起源、膈肌发育和形态发生以及膈肌先天性缺陷的遗传和发育病因的现有知识。