{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T23:34:01Z","timestamp":1777937641175,"version":"3.51.4"},"reference-count":36,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2022,6,12]],"date-time":"2022-06-12T00:00:00Z","timestamp":1654992000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Pediatr Dev Pathol"],"published-print":{"date-parts":[[2022,11]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Dominant gamma-smooth muscle actin gene ( ACTG2) variants cause clinically diverse forms of visceral myopathy. Many patients undergo intestinal resection or biopsy before identification of their genetic defect. The pathology of ACTG2-variant visceral myopathy has not been evaluated systematically.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Glass slides, ultrastructural images, molecular genetic reports, and clinical records from 16 patients with pathogenic (15) or likely pathogenic (1) ACTG2 variants were reviewed and compared with surgical specimens from controls (no evidence of a primary myopathy or pseudo-obstruction due to Hirschsprung disease) and published descriptions.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The variable clinical manifestations in our cohort matched those in the literature. Only non-specific light and electron microscopic findings observed in non-myopathic controls were encountered in 13 of 16 patients. The remaining 3 patients harbored hyalinized cytoplasmic inclusions in smooth muscle cells and 1 of them had polyglucosan bodies in the muscularis propria.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Apart from hyalinized inclusions, which were only observed in 3\/16 patients, intestinal pathology in the majority of patients with ACTG2 variants is not indicative of an underlying visceral myopathy. Molecular testing should be considered even when no diagnostic intestinal pathology is identified.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/10935266221107449","type":"journal-article","created":{"date-parts":[[2022,6,12]],"date-time":"2022-06-12T22:19:43Z","timestamp":1655072383000},"page":"581-597","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":6,"title":["Intestinal Pathology in Patients With Pathogenic\n                    <i>ACTG2<\/i>\n                    -Variant Visceral Myopathy: 16 Patients From 12 Families and Review of the Literature"],"prefix":"10.1177","volume":"25","author":[{"given":"Raj P.","family":"Kapur","sequence":"first","affiliation":[{"name":"Department of Laboratories, Seattle Children\u2019s Hospital, Seattle, WA, USA"},{"name":"Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Allan M.","family":"Goldstein","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deborah S.","family":"Loeff","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery, Comer Children\u2019s Hospital, University of Chicago Medicine, Chicago, IL, USA"},{"name":"Advocate Aurora Children\u2019s Hospital, Park Ridge, IL, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Candace T.","family":"Myers","sequence":"additional","affiliation":[{"name":"Department of Laboratories, Seattle Children\u2019s Hospital, Seattle, WA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cate R.","family":"Paschal","sequence":"additional","affiliation":[{"name":"Department of Laboratories, Seattle Children\u2019s 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