Congenital megabladder
Definition:
Congenital megabladder (MGBL) is characterized by a massively dilated urinary bladder with disrupted smooth muscle in its wall. It has been reported that loss of function mutations in myocardin cause this disease. Myocardin is required for maintenance of vascular and visceral smooth muscle homeostasis during postnatal development.
References:
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[1]. Arjan C Houweling, et al. Loss-of-function variants in myocardin cause congenital megabladder in humans and mice. J Clin Invest. 2019 Dec 2;129(12):5374-5380. [Content Brief]
[2]. Jianhe Huang, et al. Myocardin is required for maintenance of vascular and visceral smooth muscle homeostasis during postnatal development. Proc Natl Acad Sci U S A. 2015 Apr 7;112(14):4447-52. [Content Brief]
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