{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T22:42:47Z","timestamp":1777329767284,"version":"3.51.4"},"reference-count":13,"publisher":"Walter de Gruyter GmbH","issue":"2","license":[{"start":{"date-parts":[[2023,12,1]],"date-time":"2023-12-01T00:00:00Z","timestamp":1701388800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/3.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,12,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Salih myopathy is autosomal recessive hereditary early-onset myopathy with fatal cardiomyopathy. It is a rare and heterogeneous form of congenital titinopathies (TTN). Affected children have delayed motor development, normal mental development, and in further course dilated cardiomyopathy. Motor functions have a tendency to improve, but death occurs most often before 20 years of age due to arrhythmias.<\/jats:p>\n                  <jats:p>Our patient is a 2-year-old girl, born in severe perinatal asphyxia, with global hypotonia and poor spontaneous movements. She required immediate endotracheal intubation and mechanical ventilation was initiated without the possibility of cessation. Improvement in her neurological status was not observed. Due to her clinical presentation, we performed genetic testing and a diagnosis of Salih myopathy caused by combination of two heterozygous TTN mutations was confirmed.<\/jats:p>\n                  <jats:p>This case illustrates that Salih myopathy may have severe presentation from birth, with continuous necessity for mechanical ventilation, without any motor improvement.<\/jats:p>","DOI":"10.2478\/bjmg-2023-0015","type":"journal-article","created":{"date-parts":[[2024,3,12]],"date-time":"2024-03-12T17:42:21Z","timestamp":1710265341000},"page":"73-76","source":"Crossref","is-referenced-by-count":1,"title":["Severe Form of Salih Myopathy Caused by Combination of Two Heterozygous TTN Mutations"],"prefix":"10.2478","volume":"26","author":[{"given":"M","family":"Milojkovi\u0107","sequence":"first","affiliation":[{"name":"Institute for Child\u2019s and Youth Health Care of Vojvodina"},{"name":"Novi Sad, Serbia, University of Novi Sad, Faculty of Medicine , Novi Sad , Serbia ."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Jari\u0107","sequence":"additional","affiliation":[{"name":"Institute for Child\u2019s and Youth Health Care of Vojvodina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V","family":"Stojanovi\u0107","sequence":"additional","affiliation":[{"name":"Institute for Child\u2019s and Youth Health Care of Vojvodina"},{"name":"Novi Sad, Serbia, University of Novi Sad, Faculty of Medicine , Novi Sad , Serbia ."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N","family":"Bari\u0161i\u0107","sequence":"additional","affiliation":[{"name":"Institute for Child\u2019s and Youth Health Care of Vojvodina"},{"name":"Novi Sad, Serbia, University of Novi Sad, Faculty of Medicine , Novi Sad , Serbia ."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I","family":"Kave\u010dan","sequence":"additional","affiliation":[{"name":"Institute for Child\u2019s and Youth Health Care of Vojvodina"},{"name":"Novi Sad, Serbia, University of Novi Sad, Faculty of Medicine , Novi Sad , Serbia ."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2024,3,12]]},"reference":[{"key":"2026042718403043304_j_bjmg-2023-0015_ref_001","doi-asserted-by":"crossref","unstructured":"Chauveau C, Rowell J, Ferreiro A. A Rising Titan: TTN Review and Mutation Update. Human Mutation. 2014;35(9):1046\u201359.","DOI":"10.1002\/humu.22611"},{"key":"2026042718403043304_j_bjmg-2023-0015_ref_002","doi-asserted-by":"crossref","unstructured":"Savarese M, Vihola A, Oates EC, Barresi R, Fiorillo C, Tasca G, et al. Genotype\u2013phenotype correlations in recessive titinopathies. Genetics in Medicine. 2020;22(12):2029\u201340.","DOI":"10.1038\/s41436-020-0914-2"},{"key":"2026042718403043304_j_bjmg-2023-0015_ref_003","unstructured":"Hackman P, Savarese M, Carmignac V, Udd B, Salih MA. Salih Myopathy. In: Adam MP, Feldman J, Mirzaa GM, et al., eds. GeneReviews. Seattle (WA): University of Washington, Seattle; January 12, 2012."},{"key":"2026042718403043304_j_bjmg-2023-0015_ref_004","doi-asserted-by":"crossref","unstructured":"Anandakrishnan P, Sivabalakrishnan J. Early presentation of cardiac dysfunction in Salih myopathy. Neuromuscul Disord. 2021;31(1):S159.","DOI":"10.1016\/j.nmd.2021.07.386"},{"key":"2026042718403043304_j_bjmg-2023-0015_ref_005","doi-asserted-by":"crossref","unstructured":"Carmignac V, Salih MA, Quijano-Roy S, Marchand S, Al Rayess MM, Mukhtar MM, et al. C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. Ann Neurol. 2007;61(4):340\u201351.","DOI":"10.1002\/ana.21089"},{"key":"2026042718403043304_j_bjmg-2023-0015_ref_006","doi-asserted-by":"crossref","unstructured":"Madavi M, Mohsen-Pour N, Maleki M, Hesami M, Naderi N, Houshmand G, et al. Whole-exome sequencing identified compound heterozygous variants in the TTN gene causing Salih myopathy with dilated cardiomyopathy in an Iranian family. Cardiol Young. 2022;32(9):1462\u20137.","DOI":"10.1017\/S1047951121004455"},{"key":"2026042718403043304_j_bjmg-2023-0015_ref_007","doi-asserted-by":"crossref","unstructured":"Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, DeChene ET, Swanson LC, et al. Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology. 2013;81(14):1205\u201314.","DOI":"10.1212\/WNL.0b013e3182a6ca62"},{"key":"2026042718403043304_j_bjmg-2023-0015_ref_008","doi-asserted-by":"crossref","unstructured":"B\u00f6nnemann CG, Wang CH, Quijano-Roy S, Deconinck N, Bertini E, Ferreiro A, et al. Diagnostic approach to the congenital muscular dystrophies. Neuromuscul Disord. 2014;24(4):289\u2013311.","DOI":"10.1016\/j.nmd.2013.12.011"},{"key":"2026042718403043304_j_bjmg-2023-0015_ref_009","doi-asserted-by":"crossref","unstructured":"Chauveau C, Bonnemann C, Julien C, Kho A, Marks H, Talim B, et al. Recessive TTN truncating mutations define novel forms of core myopathy with heart disease. Hum Molec Genet. 2014;23:980\u201391.","DOI":"10.1093\/hmg\/ddt494"},{"key":"2026042718403043304_j_bjmg-2023-0015_ref_010","unstructured":"Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, et al. Congenital Titinopathy: Comprehensive characterization and pathogenic insights. Ann Neurol. 2018(6):1105\u201324."},{"key":"2026042718403043304_j_bjmg-2023-0015_ref_011","unstructured":"Kadiri YE, Ratbi I, Lyahyai J, Sefiani A. M-line TTN Mutations in Salih Myopathy: Novel Biallelic Mutation and Review of the Literature [Internet]. Available from: https:\/\/scite.ai\/reports\/m-line-ttn-mutations-insalih-OVEaaPAj."},{"key":"2026042718403043304_j_bjmg-2023-0015_ref_012","doi-asserted-by":"crossref","unstructured":"Kadiri EY, Ratbi I, Sefiani A, Lyahyai J. Clinical and molecular genetic analysis of early-onset myopathy with fatal cardiomyopathy: Novel biallelic M-line TTN mutation and review of the literature. Gene Reports. 2022(27):101587.","DOI":"10.1016\/j.genrep.2022.101587"},{"key":"2026042718403043304_j_bjmg-2023-0015_ref_013","doi-asserted-by":"crossref","unstructured":"Subahi SA. Distinguishing Cardiac Features of a Novel Form of Congenital Muscular Dystrophy (Salih cmd). Pediatr Cardiol. 2001;22(4):297\u2013301.","DOI":"10.1007\/s002460010233"}],"container-title":["Balkan Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/reference-global.com\/pdf\/10.2478\/bjmg-2023-0015","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T22:08:18Z","timestamp":1777327698000},"score":1,"resource":{"primary":{"URL":"https:\/\/reference-global.com\/article\/10.2478\/bjmg-2023-0015"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12,1]]},"references-count":13,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2024,3,12]]},"published-print":{"date-parts":[[2023,12,1]]}},"alternative-id":["10.2478\/bjmg-2023-0015"],"URL":"https:\/\/doi.org\/10.2478\/bjmg-2023-0015","relation":{},"ISSN":["1311-0160"],"issn-type":[{"value":"1311-0160","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,12,1]]}}}