Hashmi SK, Ceron RH, Heuckeroth RO

Visceral myopathy: clinical syndromes, genetics, pathophysiology, and fall of the cytoskeleton.

Am J Physiol Gastrointest Liver Physiol 320:G919-G935 (2021)
DOI:10.1152/ajpgi.00066.2021

Pannu H, Tran-Fadulu V, Papke CL, Scherer S, Liu Y, Presley C, Guo D, Estrera AL, Safi HJ, Brasier AR, Vick GW, Marian AJ, Raman CS, Buja LM, Milewicz DM

MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II.

Hum Mol Genet 16:2453-62 (2007)
DOI:10.1093/hmg/ddm201

Gauthier J, Ouled Amar Bencheikh B, Hamdan FF, Harrison SM, Baker LA, Couture F, Thiffault I, Ouazzani R, Samuels ME, Mitchell GA, Rouleau GA, Michaud JL, Soucy JF

A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome.

Eur J Hum Genet 23:1266-8 (2015)
DOI:10.1038/ejhg.2014.256