{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T14:10:56Z","timestamp":1782569456360,"version":"3.54.5"},"reference-count":37,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2016,8,2]],"date-time":"2016-08-02T00:00:00Z","timestamp":1470096000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["1U54HG006542"],"award-info":[{"award-number":["1U54HG006542"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"National Council for Scientific and Technological Development","doi-asserted-by":"publisher","award":["590148\/2011\u20107"],"award-info":[{"award-number":["590148\/2011\u20107"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,11]]},"abstract":"<jats:sec><jats:label\/><jats:p>Visceral motility dysfunction is a key feature of genetic disorders such as megacystis\u2010microcolon\u2010intestinal hypoperistalsis syndrome (MMIHS, MIM moved from 249210 to 155310), chronic intestinal pseudo\u2010obstruction (CIPO, MIM609629), and multisystemic smooth muscle dysfunction syndrome (MSMDS, MIM613834). The genetic bases of these conditions recently begun to be clarified with the identification of pathogenic variants in <jats:italic>ACTG2<\/jats:italic>, <jats:italic>ACTA2<\/jats:italic>, and <jats:italic>MYH11<\/jats:italic> in individuals with visceral motility dysfunction. The MMIHS was associated with the heterozygous variant in <jats:italic>ACTG2<\/jats:italic> and homozygous variant in <jats:italic>MYH11<\/jats:italic>, while the heterozygous variant in <jats:italic>ACTA2<\/jats:italic> was observed in patients with MSMDS. In this study, we describe the clinical data as well as the molecular investigation of seven individuals with visceral myopathy phenotypes. Five patients presented with MMIHS, including two siblings from consanguineous parents, one had CIPO, and the other had MSMDS. In three individuals with MMIHS and in one with CIPO we identified heterozygous variant in <jats:italic>ACTG2<\/jats:italic>, one being a novel variant (c.584C&gt;T\u2014p.Thr195Ile). In the individual with MSMDS we identified a heterozygous variant in <jats:italic>ACTA2<\/jats:italic>. We performed the whole\u2010exome sequencing in one sibling with MMIHS and her parents; however, the pathogenic variant responsible for her phenotype could not be identified. These results reinforce the clinical and genetic heterogeneity of the visceral myopathies. Although many cases of MMIHS are associated with <jats:italic>ACTG2<\/jats:italic> variants, we suggest that other genes, besides <jats:italic>MYH11<\/jats:italic>, could cause the MMIHS with autosomal recessive pattern. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37857","type":"journal-article","created":{"date-parts":[[2016,8,3]],"date-time":"2016-08-03T12:28:03Z","timestamp":1470227283000},"page":"2965-2974","source":"Crossref","is-referenced-by-count":39,"title":["Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes"],"prefix":"10.1002","volume":"170","author":[{"given":"Carolina Araujo","family":"Moreno","sequence":"first","affiliation":[{"name":"Faculty of Medical Sciences Departmentof Medical Genetics State University of Campinas Campinas 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