ArticleInternational journal of surgical pathology2019
ACTG2-Associated Visceral Myopathy With Chronic Intestinal Pseudoobstruction, Intestinal Malrotation, Hypertrophic Pyloric Stenosis, Choledochal Cyst, and a Novel Missense Mutation.
Article in International journal of surgical pathology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 20 citations in OpenAlex.
- Unmasking the "Braided" Bowel: Chronic Intestinal Pseudo-Obstruction-A Case Report.Diagnostics (Basel, Switzerland) · 2026Article
- International Forum on Visceral Myopathy 2024: Advances in the Knowledge of the Disease.Neurogastroenterology and motility · 2026Review
- Gamma smooth muscle actin as a new potential marker of cancer-associated fibroblasts.Histochemistry and cell biology · 2025Article
- 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
- Smooth muscle motility disorder phenotypes: A systematic review of cases associated with seven pathogenic genes (Intractable & rare diseases research · 2022Review
- Article
- Visceral myopathy: clinical syndromes, genetics, pathophysiology, and fall of the cytoskeleton.American journal of physiology. Gastrointestinal and liver physiology · 2021Review
- Clinical Outcomes of Pediatric Chronic Intestinal Pseudo-Obstruction.Journal of clinical medicine · 2021Article
- Recurrent spontaneous small bowel perforations with a rare pathology: non-familial visceral myopathy.BMJ case reports · 2021Article
- Initial Presentation of a Pediatric Intestinal Pseudo-Obstruction Episode After SARS-CoV-2 Virus (COVID-19) Infection.JPGN reports · 2021Article
- Visceral myopathy diagnosed by a de novoTranslational pediatrics · 2021Article
- Actin Mutations and Their Role in Disease.International journal of molecular sciences · 2020Review
- Hollow Visceral Myopathy, a Rare Gastrointestinal Disorder: A Case Report and Short Review.Journal of investigative medicine high impact case reportsReview
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
Primary visceral myopathy caused by a pathogenic mutation in the gene encoding the enteric smooth muscle actin gamma 2 ( ACTG2) affects gastrointestinal and genitourinary tracts and often presents as chronic intestinal pseudoobstruction. We present a case of pediatric onset chronic intestinal pseudoobstruction associated with a novel missense ACTG2 mutation c.439G>T/p.G147C. In addition to the known disease manifestations of feeding intolerance and intestinal malrotation, our patient had a late-onset hypertrophic pyloric stenosis and a late-onset choledochal cyst, the former of which has not previously been described in patients with ACTG2-associated visceral myopathy.
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Registered trials
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.