Actg2D245G mutation cause megacystis-microcolon-intestinal hypoperistalsis syndrome by impairing smooth muscle contractility
Author / Expert
Jie Zhou, Shanshan Chen, Hui Cai, Ying Lu, Shicheng Peng, Wei Cai, Yongtao Xiao, Ying Wang
Topic overview
Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS; OMIM:619431) is a congenital disorder of the urinary and digestive systems that is caused by contractile dysfunction of smooth muscles. Recent studies have shown that ACTG2(HGNC:145) is the main gene involved in the pathogenesis of this disease. Herein, we aimed to investigate the correlation between the Actg2D245G mutation and disease phenotypes.
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