ReviewAmerican journal of medical genetics. Part A2016
Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes.
Review in American journal of medical genetics. Part A, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 41 citations in OpenAlex.
- Consanguinity and its relevance for the incidence of megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS): systematic review.Pediatric surgery international · 2019Pooled it
- Clinical, manometric, genetic, and histologic associations in pediatric intestinal pseudo-obstruction: A case series.Journal of pediatric gastroenterology and nutrition · 2026Article
- A decade of whole-exome sequencing in Brazilian Neurology: from past insights to future perspectives.Arquivos de neuro-psiquiatria · 2025Review
- Phenotype and genotype in hereditary chronic intestinal pseudo-obstruction with small intestine involvement.Frontiers in medicine · 2025Review
- Molecular mechanisms linking missense ACTG2 mutations to visceral myopathy.Science advances · 2024Article
- Case report: Multisystemic smooth muscle dysfunction syndrome: a rare genetic cause of infantile interstitial lung disease.Frontiers in pharmacology · 2024Article
- Use of whole genome sequencing to determine the genetic basis of visceral myopathies including Prune Belly syndrome.Journal of rare diseases (Berlin, Germany) · 2023Article
- Enteric Neuromyopathies: Highlights on Genetic Mechanisms Underlying Chronic Intestinal Pseudo-Obstruction.Biomolecules · 2022Review
- Smooth muscle motility disorder phenotypes: A systematic review of cases associated with seven pathogenic genes (Intractable & rare diseases research · 2022Review
- Novel understanding on genetic mechanisms of enteric neuropathies leading to severe gut dysmotility.European journal of histochemistry : EJH · 2021Review
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- Article
- Visceral myopathy: clinical syndromes, genetics, pathophysiology, and fall of the cytoskeleton.American journal of physiology. Gastrointestinal and liver physiology · 2021Review
- Recurrent spontaneous small bowel perforations with a rare pathology: non-familial visceral myopathy.BMJ case reports · 2021Article
- Visceral myopathy diagnosed by a de novoTranslational pediatrics · 2021Article
- Compound heterozygous loss of function variants in MYL9 in a child with megacystis-microcolon-intestinal hypoperistalsis syndrome.Molecular genetics & genomic medicine · 2020Article
- Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.Human mutation · 2020Article
- Multisystem smooth muscle dysfunction syndrome in a Chinese girl: A case report and review of the literature.World journal of clinical cases · 2019Article
- ACTG2-Associated Visceral Myopathy With Chronic Intestinal Pseudoobstruction, Intestinal Malrotation, Hypertrophic Pyloric Stenosis, Choledochal Cyst, and a Novel Missense Mutation.International journal of surgical pathology · 2019Article
- Homozygous deletion in MYL9 expands the molecular basis of megacystis-microcolon-intestinal hypoperistalsis syndrome.European journal of human genetics : EJHG · 2018Article
Corrections and comments
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Authors and funding
8 authors at 5 institutions in 3 countries.
Funding
Abstract
Visceral motility dysfunction is a key feature of genetic disorders such as megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS, MIM moved from 249210 to 155310), chronic intestinal pseudo-obstruction (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 ACTG2, ACTA2, and MYH11 in individuals with visceral motility dysfunction. The MMIHS was associated with the heterozygous variant in ACTG2 and homozygous variant in MYH11, while the heterozygous variant in ACTA2 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 ACTG2, one being a novel variant (c.584C>T-p.Thr195Ile). In the individual with MSMDS we identified a heterozygous variant in ACTA2. We performed the whole-exome 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 ACTG2 variants, we suggest that other genes, besides MYH11, could cause the MMIHS with autosomal recessive pattern. © 2016 Wiley Periodicals, Inc.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.