{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T09:08:42Z","timestamp":1770800922309,"version":"3.50.0"},"reference-count":11,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T00:00:00Z","timestamp":1770681600000},"content-version":"vor","delay-in-days":40,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"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":["Case Reports in Genetics"],"published-print":{"date-parts":[[2026,1]]},"abstract":"\n Background<\/jats:title>\n \n Hereditary myopathy with early respiratory failure (HMERF) is a rare autosomal dominant disorder caused by\n TTN<\/jats:italic>\n variants.\n COL4A5<\/jats:italic>\n mutations are linked to X\u2010linked Alport syndrome.\n <\/jats:p>\n <\/jats:sec>\n \n Case Presentation<\/jats:title>\n \n A 34\u2010year\u2010old male developed progressive lower limb weakness, gait disturbance, nocturnal hypoventilation, and calf hypertrophy. Family history revealed similar symptoms in his mother and sister. Examination showed absent reflexes; MRI demonstrated muscle atrophy and fatty replacement; needle electromyography (EMG) was performed and showed findings consistent with advanced myopathy; however, it was not used as a primary diagnostic tool. Whole\u2010exome sequencing identified a pathogenic\n TTN<\/jats:italic>\n variant (c.95126C\u2009>\u2009G, p.Pro31709Arg), confirming HMERF. A hemizygous\n COL4A5<\/jats:italic>\n variant (c.4891C\u2009>\u2009T, p.Arg1631Cys) was also detected but lacked clinical correlation.\n <\/jats:p>\n <\/jats:sec>\n \n Discussion and Conclusion<\/jats:title>\n \n This case illustrates a classic HMERF phenotype confirmed genetically, with an incidental\n COL4A5<\/jats:italic>\n variant of uncertain significance. It underscores the importance of genomic testing in atypical neuromuscular presentations and the need for cautious interpretation of incidental findings.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1155\/crig\/1630468","type":"journal-article","created":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T05:32:29Z","timestamp":1770787949000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Hereditary Myopathy With Early Respiratory Failure Associated With an Incidental\n COL4A5<\/i>\n Variant: A Case Report"],"prefix":"10.1155","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-2356-0751","authenticated-orcid":false,"given":"Ursula","family":"Abu Nahla","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-0804-2909","authenticated-orcid":false,"given":"Rahaf","family":"Bleibel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-9342-545X","authenticated-orcid":false,"given":"Mai","family":"Arafeh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-6465-7418","authenticated-orcid":false,"given":"Saif Khaled Abdalhadi","family":"Azzam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-5997-5780","authenticated-orcid":false,"given":"Lina","family":"Barhoum","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-6833-5313","authenticated-orcid":false,"given":"Mostafa","family":"Ibraheem","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-8811-3559","authenticated-orcid":false,"given":"Motaz","family":"Altamimi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-7448-9779","authenticated-orcid":false,"given":"Bashar","family":"Sultan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-0884-430X","authenticated-orcid":false,"given":"Orwa","family":"Al Fallah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,2,10]]},"reference":[{"key":"e_1_2_13_1_2","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2377-13-29"},{"key":"e_1_2_13_2_2","unstructured":"PfefferG.andChinneryP. F. Hereditary Myopathy with Early Respiratory Failure Genereviews [Internet] University of Washington Seattle 1993\u20132025."},{"key":"e_1_2_13_3_2","unstructured":"KashtanC. E. Alport syndrome Genereviews [Internet] University of Washington Seattle Seattle (WA) 1993\u20132025."},{"key":"e_1_2_13_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfae265"},{"key":"e_1_2_13_5_2","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2022.997551"},{"key":"e_1_2_13_6_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10072-021-05783-1"},{"key":"e_1_2_13_7_2","volume-title":"TTN Variant (RCV002504417)","author":"National Center for Biotechnology Information (Ncbi)","year":"2023"},{"key":"e_1_2_13_8_2","doi-asserted-by":"publisher","DOI":"10.2215\/cjn.04230321"},{"key":"e_1_2_13_9_2","article-title":"Case Report: Whole Genome Sequencing Identifies a Novel Deep Intronic COL4A5 Variant of Uncertain Significance in X-linked Alport syndrome","author":"Kim H. S.","year":"2025","journal-title":"Frontiers in Pediatrics"},{"key":"e_1_2_13_10_2","article-title":"Hereditary Myopathy with Early Respiratory Failure","volume":"26","author":"Garc\u00eda-Alc\u00e1ntara G.","year":"2025","journal-title":"Practical Neurology"},{"key":"e_1_2_13_11_2","doi-asserted-by":"publisher","DOI":"10.3390\/children10091529"}],"container-title":["Case Reports in Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crig\/1630468","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1155\/crig\/1630468","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crig\/1630468","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T05:32:31Z","timestamp":1770787951000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/crig\/1630468"}},"subtitle":[],"editor":[{"given":"Balraj","family":"Mittal","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":11,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1155\/crig\/1630468"],"URL":"https:\/\/doi.org\/10.1155\/crig\/1630468","archive":["Portico"],"relation":{},"ISSN":["2090-6544","2090-6552"],"issn-type":[{"value":"2090-6544","type":"print"},{"value":"2090-6552","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1]]},"assertion":[{"value":"2025-09-29","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-01-14","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-02-10","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"1630468"}}