Article
Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice
14 Mar 2017
Abstract excerpt
Significance Rare recessive monogenic diseases are often found in isolated populations. In one such population, we identified a child carrying a homozygous nonsense mutation in an understudied smooth muscle-restricted gene called Leiomodin1 ( LMOD1 ). Heterozygous parents showed no disease; however, the child died shortly after birth from a rare condition known as megacystis microcolon intestinal hypoperistalsis...
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