{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:50:39Z","timestamp":1786978239719,"version":"build-2736575974"},"reference-count":30,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,4,26]],"date-time":"2026-04-26T00:00:00Z","timestamp":1777161600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,4,26]],"date-time":"2026-04-26T00:00:00Z","timestamp":1777161600000},"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":["Muscle and Nerve"],"published-print":{"date-parts":[[2026,7]]},"abstract":"ABSTRACT<\/jats:title>\n \n Introduction\/Aims<\/jats:title>\n Data on respiratory, feeding, ambulatory outcomes and prognostic factors for congenital myopathies (CM) and congenital muscular dystrophies (CMD) remain limited. Therefore, in this study, we report the characteristics of a large single\u2010center cohort of patients with CM and CMD, focusing on long\u2010term outcomes and aiming to identify factors associated with invasive ventilation, feeding tube, and wheelchair dependence.<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n Patients with a diagnosis of CM or CMD evaluated at Children's Health Dallas between 2011 and 2024 were identified using ICD codes and their medical records were reviewed. Genetic, clinical, histopathologic, electrodiagnostic, imaging and laboratory data were collected.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n There were 145 patients, with the most common genes being\n RYR1<\/jats:italic>\n (29),\n COL6A1\/2\/3<\/jats:italic>\n (16),\n MTM1<\/jats:italic>\n (16),\n TTN<\/jats:italic>\n (15),\n LAMA2<\/jats:italic>\n (14),\n NEB<\/jats:italic>\n (12). Of 128 patients above 3\u2009years old, 65 (51%) were ambulatory. Thirty\u2010three of 145 (23%) required invasive ventilation and 50 of 145 (34%) had a feeding tube. The causative gene significantly correlated with ventilation (Cramer's V 0.46, moderate effect,\n p<\/jats:italic>\n \u2009<\u20090.001) and feeding tube (Cramer's V 0.48, moderate effect,\n p<\/jats:italic>\n \u2009<\u20090.001) dependence, whereas contractures in multiple joints correlated with wheelchair dependence across the cohort (Cramer's V 0.58, large effect,\n p<\/jats:italic>\n \u2009<\u20090.001).\n <\/jats:p>\n <\/jats:sec>\n \n Discussion<\/jats:title>\n In this study, the causative gene was the major driver of ventilation and feeding support whereas multiple joint contractures correlated with wheelchair dependence. These results may help guide clinicians in counseling families on respiratory, feeding and ambulatory outcomes; however, prospective multicenter studies are needed to confirm the findings and identify additional prognostic factors.<\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/mus.70256","type":"journal-article","created":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T02:25:38Z","timestamp":1777256738000},"page":"121-130","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Congenital Myopathies and Muscular Dystrophies: A Single Tertiary Center Experience and Factors Associated With Long\u2010Term Outcomes"],"prefix":"10.1002","volume":"74","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3643-1422","authenticated-orcid":false,"given":"Can","family":"Ozlu","sequence":"first","affiliation":[{"name":"Department of Pediatrics University of Texas Southwestern Medical Center Dallas Texas 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