Article
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.
Human mutation - 1 Mar 2020
Assia Batzir Nurit, Kishor Bhagwat Pranjali, Larson Austin, Coban Akdemir Zeynep, Bagłaj Maciej, Bofferding Leon, Bosanko Katherine B, Bouassida Skander, Callewaert Bert, Cannon Ashley, Enchautegui Colon Yazmin, Garnica Adolfo D, Harr Margaret H, Heck Sandra, Hurst Anna C E, Jhangiani Shalini N, Isidor Bertrand, Littlejohn Rebecca O, Liu Pengfei, Magoulas Pilar, Mar Fan Helen, Marom Ronit, McLean Scott, Nezarati Marjan M, Nugent Kimberly M, Petersen Michael B, Rocha Maria L, Roeder Elizabeth, Smigiel Robert, Tully Ian, Weisfeld-Adams James, Wells Katerina O, Posey Jennifer E, Lupski James R, Beaudet Arthur L, Wangler Michael F
Abstract excerpt
Visceral myopathy with abnormal intestinal and bladder peristalsis includes a clinical spectrum with megacystis-microcolon intestinal hypoperistalsis syndrome and chronic intestinal pseudo-obstruction. The vast majority of cases are caused by dominant variants in ACTG2; however, the overall genetic architecture of visceral myopathy has not been well-characterized. We ascertained 53 families, with visceral...
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