{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T15:50:37Z","timestamp":1791561037514,"version":"4.3.4"},"reference-count":16,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T00:00:00Z","timestamp":1782432000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T00:00:00Z","timestamp":1782432000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    <jats:italic>MYH11<\/jats:italic>\n                    \u2010related hereditary type 2 visceral myopathy is a rare smooth muscle disorder typically presenting in infancy with severe gastrointestinal and genitourinary dysfunction. We describe a 73\u2010year\u2010old female with lifelong symptoms of gastrointestinal and urinary dysfunction, including chronic constipation, neurogenic bladder, recurrent urinary tract infections, gastroparesis, and pelvic organ prolapse. A multigenerational family history revealed similar visceral smooth muscle abnormalities among 14 affected individuals over five generations, suggesting autosomal dominant inheritance. Whole\u2010genome sequencing identified a heterozygous, likely pathogenic variant in\n                    <jats:italic>MYH11<\/jats:italic>\n                    c.5819del; p.(Pro1940HisfsTer91), consistent with the diagnosis of autosomal dominant type 2 visceral myopathy. This variant causes production of an abnormally elongated myosin\u2010heavy chain, disrupting muscle contractile function. This individual's survival into her eighth decade reflects long\u2010term clinical stability, possibly attributable to the variant's milder effect. We describe the clinical course of the disease, along with a comprehensive review of previously described individuals with the same variant. This case broadens the phenotypic spectrum of\n                    <jats:italic>MYH11<\/jats:italic>\n                    \u2010associated visceral myopathy, demonstrating that late\u2010onset, milder forms can occur and remain compatible with long\u2010term survival with optimal supportive management. Comprehensive genetic evaluation identifies primary disorders, enabling precise diagnosis, tailored management, and informed genetic counseling for complex phenotypes.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70235","type":"journal-article","created":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T03:09:36Z","timestamp":1782529776000},"page":"2575-2580","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["<i>MYH11<\/i>\n                    \u2010Related Hereditary Type 2 Visceral Myopathy in a Large Kindred: Diagnostic Odyssey With Milder Clinical Manifestations"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-9645-7354","authenticated-orcid":false,"given":"Jai Kumar Rajavoor","family":"Muniswamy","sequence":"first","affiliation":[{"name":"Department of Clinical Genomics Mayo Clinic  Jacksonville Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elise","family":"Van Zele","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics Mayo Clinic  Jacksonville Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali","family":"Agely","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Radiology Mayo Clinic  Jacksonville Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1009-6555","authenticated-orcid":false,"given":"Karthik","family":"Muthusamy","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics Mayo Clinic  Jacksonville Florida USA"},{"name":"Department of Neurology Mayo Clinic  Jacksonville Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,6,26]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0029(20000915)50:6<532::AID-JEMT10>3.0.CO;2-E"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12328-024-01934-x"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13617"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s44162-023-00012-z"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23986"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpgi.00066.2021"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.2188\/jea.JE20120173"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.4240\/wjgs.v17.i6.107235"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1177\/10935266221128133"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.12998\/wjcc.v10.i34.12623"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37857"},{"issue":"3","key":"e_1_2_8_13_1","first-page":"323","article-title":"Chronic Intestinal Pseudo\u2010Obstruction Syndrome in Pediatrics. Results of a National Survey by Members of the North American Society of Pediatric Gastroenterology and Nutrition","volume":"7","author":"Vargas J. 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