{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T13:48:28Z","timestamp":1784555308971,"version":"3.55.0"},"reference-count":29,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2024,2,16]],"date-time":"2024-02-16T00:00:00Z","timestamp":1708041600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2024,2,16]],"date-time":"2024-02-16T00:00:00Z","timestamp":1708041600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Genes Genom"],"published-print":{"date-parts":[[2024,5]]},"DOI":"10.1007\/s13258-024-01502-0","type":"journal-article","created":{"date-parts":[[2024,2,16]],"date-time":"2024-02-16T11:03:11Z","timestamp":1708081391000},"page":"613-620","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["A rare TNNT1 gene variant causing creatine kinase elevation in nemaline myopathy: c.271_273del (p.Lys91del)"],"prefix":"10.1007","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1597-5922","authenticated-orcid":false,"given":"C\u00fcneyd","family":"Yava\u015f","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mustafa","family":"Do\u011fan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Recep","family":"Er\u00f6z","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K\u00fcbra","family":"T\u00fcreg\u00fcn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,2,16]]},"reference":[{"key":"1502_CR1","doi-asserted-by":"publisher","first-page":"564","DOI":"10.1002\/mus.24885","volume":"53","author":"UN Abdulhaq","year":"2016","unstructured":"Abdulhaq UN, Daana M, Dor T, Fellig Y, Eylon S, Schuelke M, Shaag A et al (2016) Nemaline body myopathy caused by a novel mutation in troponin T1 (TNNT1). Muscle Nerve 53:564\u2013569. https:\/\/doi.org\/10.1002\/mus.24885","journal-title":"Muscle Nerve"},{"key":"1502_CR2","doi-asserted-by":"publisher","first-page":"257","DOI":"10.33631\/sabd.1247255","volume":"13","author":"S Baris","year":"2023","unstructured":"Baris S, Yavas C, Balasar \u00d6, Gordu Z, Dogan M, Eroz R (2023) Bat\u0131 Ege B\u00f6lgesinde \u03b1-Talasemi genotipleri ve \u03b1-Talasemi Genotip Frekans\u0131. Sa\u011fl\u0131k Bilimlerinde De\u011fer 13:257\u2013262","journal-title":"Sa\u011fl\u0131k Bilimlerinde De\u011fer"},{"key":"1502_CR3","doi-asserted-by":"publisher","first-page":"142","DOI":"10.1186\/s40478-020-01017-1","volume":"8","author":"JS Clayton","year":"2020","unstructured":"Clayton JS, McNamara EL, Goullee H, Conijn S, Muthsam K, Musk GC, Coote D et al (2020) Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy. Acta Neuropathol Commun 8:142. https:\/\/doi.org\/10.1186\/s40478-020-01017-1","journal-title":"Acta Neuropathol Commun"},{"key":"1502_CR4","doi-asserted-by":"publisher","first-page":"766","DOI":"10.1016\/j.nmd.2019.09.005","volume":"29","author":"A D\u2019Amico","year":"2019","unstructured":"D\u2019Amico A, Fattori F, Fiorillo C, Paglietti MG, Testa MBC, Verardo M, Catteruccia M et al (2019) Amish nemaline myopathy\u2019 in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene. Neuromuscul Disord 29:766\u2013770. https:\/\/doi.org\/10.1016\/j.nmd.2019.09.005","journal-title":"Neuromuscul Disord"},{"key":"1502_CR5","doi-asserted-by":"publisher","first-page":"982","DOI":"10.1096\/fasebj.14.7.982","volume":"14","author":"AJ Dahlstedt","year":"2000","unstructured":"Dahlstedt AJ, Katz A, Wieringa B, Westerblad H (2000) Is creatine kinase responsible for fatigue? Studies of isolated skeletal muscle deficient in creatine kinase. FASEB J 14:982\u2013990. https:\/\/doi.org\/10.1096\/fasebj.14.7.982","journal-title":"FASEB J"},{"key":"1502_CR7","doi-asserted-by":"publisher","first-page":"280","DOI":"10.33631\/sabd.1068185","volume":"12","author":"M Do\u011fan","year":"2022","unstructured":"Do\u011fan M, Gezdirici A, Yava\u015f C, Recep E (2022) Tekrarlayan gebelik kay\u0131plar\u0131 nedeniyle \u00e7al\u0131\u015f\u0131lan 306 \u00e7iftin kromozom analizi ve trombofili parametrelerinin de\u011ferlendirilmesi: tek merkez deneyimi. Sa\u011fl\u0131k Bilimlerinde De\u011fer 12:280\u2013285","journal-title":"Sa\u011fl\u0131k Bilimlerinde De\u011fer"},{"key":"1502_CR6","doi-asserted-by":"publisher","first-page":"347","DOI":"10.3103\/S0095452723040035","volume":"57","author":"M Do\u011fan","year":"2023","unstructured":"Do\u011fan M, Akbulut E, Gezdirici A, Eroz R, Bozdo\u011fan ST (2023) Bialelic pathogenic (c. 830G\u2009>\u2009A (p. R277Q)) variant disrupting the GNE gene function and causes Nonaka myopathy phenotype. Cytol Genet 57:347\u2013355","journal-title":"Cytol Genet"},{"key":"1502_CR8","doi-asserted-by":"publisher","first-page":"386","DOI":"10.1111\/cge.12810","volume":"91","author":"Z Fattahi","year":"2017","unstructured":"Fattahi Z, Kalhor Z, Fadaee M, Vazehan R, Parsimehr E, Abolhassani A, Beheshtian M et al (2017) Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. Clin Genet 91:386\u2013402. https:\/\/doi.org\/10.1111\/cge.12810","journal-title":"Clin Genet"},{"key":"1502_CR9","doi-asserted-by":"publisher","first-page":"3272","DOI":"10.1093\/hmg\/ddy233","volume":"27","author":"MD Fox","year":"2018","unstructured":"Fox MD, Carson VJ, Feng HZ, Lawlor MW, Gray JT, Brigatti KW, Jin JP et al (2018) TNNT1 nemaline myopathy: natural history and therapeutic frontier. Hum Mol Genet 27:3272\u20133282. https:\/\/doi.org\/10.1093\/hmg\/ddy233","journal-title":"Hum Mol Genet"},{"key":"1502_CR10","doi-asserted-by":"publisher","first-page":"602","DOI":"10.1136\/jmedgenet-2019-106714","volume":"58","author":"J Geraud","year":"2021","unstructured":"Geraud J, Dieterich K, Rendu J, Uro Coste E, Dobrzynski M, Marcorelle P, Ioos C et al (2021) Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy. J Med Genet 58:602\u2013608. https:\/\/doi.org\/10.1136\/jmedgenet-2019-106714","journal-title":"J Med Genet"},{"key":"1502_CR11","doi-asserted-by":"publisher","first-page":"264","DOI":"10.5505\/aot.2021.25348","volume":"54","author":"A Gezdirici","year":"2021","unstructured":"Gezdirici A, \u0130li EG, De\u011firmenci B, G\u00fcm\u00fc\u015f AA, \u00d6zdemir G, Erman NA, Yava\u015f C (2021) Hereditary breast-ovarian cancer and BRCA1\/BRCA2 variants: a single center experience. Acta Oncol Turc 54:264\u2013272","journal-title":"Acta Oncol Turc"},{"key":"1502_CR12","doi-asserted-by":"publisher","first-page":"814","DOI":"10.1086\/303089","volume":"67","author":"JJ Johnston","year":"2000","unstructured":"Johnston JJ, Kelley RI, Crawford TO, Morton DH, Agarwala R, Koch T, Schaffer AA et al (2000) A novel nemaline myopathy in the amish caused by a mutation in troponin T1. Am J Hum Genet 67:814\u2013821. https:\/\/doi.org\/10.1086\/303089","journal-title":"Am J Hum Genet"},{"key":"1502_CR13","doi-asserted-by":"publisher","first-page":"678","DOI":"10.1002\/mgg3.325","volume":"5","author":"CG Konersman","year":"2017","unstructured":"Konersman CG, Freyermuth F, Winder TL, Lawlor MW, Lagier-Tourenne C, Patel SB (2017) Novel autosomal dominant TNNT1 mutation causing nemaline myopathy. Mol Genet Genomic Med 5:678\u2013691. https:\/\/doi.org\/10.1002\/mgg3.325","journal-title":"Mol Genet Genomic Med"},{"key":"1502_CR14","doi-asserted-by":"publisher","first-page":"176","DOI":"10.1016\/j.nmd.2021.12.003","volume":"32","author":"S Lee","year":"2022","unstructured":"Lee S, Eum J, Park S, Ki S, Hwang BJ, Kee Y, Chae JH (2022) TNNT1 myopathy with novel compound heterozygous mutations. Neuromuscul Disord 32:176\u2013184. https:\/\/doi.org\/10.1016\/j.nmd.2021.12.003","journal-title":"Neuromuscul Disord"},{"key":"1502_CR15","doi-asserted-by":"publisher","first-page":"767","DOI":"10.1002\/mus.24528","volume":"51","author":"JD Marra","year":"2015","unstructured":"Marra JD, Engelstad KE, Ankala A, Tanji K, Dastgir J, De Vivo DC, Coffee B et al (2015) Identification of a novel nemaline myopathy-causing mutation in the troponin T1 (TNNT1) gene: a case outside of the old order amish. Muscle Nerve 51:767\u2013772. https:\/\/doi.org\/10.1002\/mus.24528","journal-title":"Muscle Nerve"},{"key":"1502_CR16","doi-asserted-by":"publisher","first-page":"449","DOI":"10.3389\/fphys.2016.00449","volume":"7","author":"A Mondal","year":"2016","unstructured":"Mondal A, Jin JP (2016) Protein structure-function relationship at work: learning from myopathy mutations of the slow skeletal muscle isoform of troponin T. Front Physiol 7:449. https:\/\/doi.org\/10.3389\/fphys.2016.00449","journal-title":"Front Physiol"},{"key":"1502_CR17","doi-asserted-by":"publisher","first-page":"568","DOI":"10.1002\/ana.25685","volume":"87","author":"D Pellerin","year":"2020","unstructured":"Pellerin D, Aykanat A, Ellezam B, Troiano EC, Karamchandani J, Dicaire MJ, Petitclerc M et al (2020) Novel recessive TNNT1 congenital core-rod myopathy in French canadians. Ann Neurol 87:568\u2013583. https:\/\/doi.org\/10.1002\/ana.25685","journal-title":"Ann Neurol"},{"key":"1502_CR18","doi-asserted-by":"publisher","first-page":"511","DOI":"10.1038\/s41436-019-0680-1","volume":"22","author":"M Pergande","year":"2020","unstructured":"Pergande M, Motameny S, Ozdemir O, Kreutzer M, Wang H, Daimaguler HS, Becker K et al (2020) The genomic and clinical landscape of fetal akinesia. Genet Med 22:511\u2013523. https:\/\/doi.org\/10.1038\/s41436-019-0680-1","journal-title":"Genet Med"},{"key":"1502_CR19","doi-asserted-by":"publisher","first-page":"532","DOI":"10.1016\/j.nmd.2021.03.001","volume":"31","author":"A Petrucci","year":"2021","unstructured":"Petrucci A, Primiano G, Savarese M, Sancricca C, Udd B, Servidei S (2021) Novel TNNT1 mutation and mild nemaline myopathy phenotype in an Italian patient. Neuromuscul Disord 31:532\u2013538. https:\/\/doi.org\/10.1016\/j.nmd.2021.03.001","journal-title":"Neuromuscul Disord"},{"key":"1502_CR20","doi-asserted-by":"publisher","first-page":"412","DOI":"10.3177\/jnsv.59.412","volume":"59","author":"T Sato","year":"2013","unstructured":"Sato T, Ito Y, Nagasawa T (2013) Regulation of skeletal muscle protein degradation and synthesis by oral administration of lysine in rats. J Nutr Sci Vitaminol (Tokyo) 59:412\u2013419. https:\/\/doi.org\/10.3177\/jnsv.59.412","journal-title":"J Nutr Sci Vitaminol (Tokyo)"},{"key":"1502_CR21","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1016\/j.jprot.2019.03.004","volume":"199","author":"LHP Silva","year":"2019","unstructured":"Silva LHP, Rodrigues RTS, Assis DEF, Benedeti PDB, Duarte MS, Chizzotti ML (2019) Explaining meat quality of bulls and steers by differential proteome and phosphoproteome analysis of skeletal muscle. J Proteom 199:51\u201366. https:\/\/doi.org\/10.1016\/j.jprot.2019.03.004","journal-title":"J Proteom"},{"key":"1502_CR22","doi-asserted-by":"publisher","first-page":"103567","DOI":"10.1016\/j.ejmg.2018.11.001","volume":"62","author":"H Streff","year":"2019","unstructured":"Streff H, Bi W, Colon AG, Adesina AM, Miyake CY, Lalani SR (2019) Amish nemaline myopathy and dilated cardiomyopathy caused by a homozygous contiguous gene deletion of TNNT1 and TNNI3 in a mennonite child. Eur J Med Genet 62:103567. https:\/\/doi.org\/10.1016\/j.ejmg.2018.11.001","journal-title":"Eur J Med Genet"},{"key":"1502_CR23","first-page":"52","volume":"116","author":"Y Takagi","year":"2001","unstructured":"Takagi Y, Yasuhara T, Gomi K (2001) Creatine kinase and its isozymes. Rinsho Byori Suppl 116:52\u201361","journal-title":"Rinsho Byori Suppl"},{"key":"1502_CR24","doi-asserted-by":"publisher","first-page":"224","DOI":"10.1159\/000481062","volume":"15","author":"D Turner","year":"2019","unstructured":"Turner D, Eppenberger H (2019) Developmental changes in creatine kinase and aldolase isoenzymes and their possible function in association with contractile elements. Enzyme Protein 15:224\u2013238","journal-title":"Enzyme Protein"},{"key":"1502_CR25","doi-asserted-by":"publisher","first-page":"134","DOI":"10.1002\/mgg3.52","volume":"2","author":"WL van der Pol","year":"2014","unstructured":"van der Pol WL, Leijenaar JF, Spliet WG, Lavrijsen SW, Jansen NJ, Braun KP, Mulder M et al (2014) Nemaline myopathy caused byTNNT1 mutations in a Dutch pedigree. Mol Genet Genomic Med 2:134\u2013137. https:\/\/doi.org\/10.1002\/mgg3.52","journal-title":"Mol Genet Genomic Med"},{"key":"1502_CR26","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1038\/s10038-022-01096-z","volume":"68","author":"G Wang","year":"2023","unstructured":"Wang G, Zhao D, Yan C, Lin P (2023) Exon skipping caused by splicing mutation in TNNT1 nemaline myopathy. J Hum Genet 68:97\u2013101. https:\/\/doi.org\/10.1038\/s10038-022-01096-z","journal-title":"J Hum Genet"},{"key":"1502_CR27","doi-asserted-by":"publisher","unstructured":"Yamashita S, Nagatoshi A, Takeuchi Y, Nishino I, Ueda M (2023) Myopathic changes caused by protein aggregates in adult-onset spinal muscular atrophy. Neuropathology https:\/\/doi.org\/10.1111\/neup.12901","DOI":"10.1111\/neup.12901"},{"key":"1502_CR28","doi-asserted-by":"publisher","unstructured":"Yavas C, Un C, Celebi E, Gezdirici A, Dogan M, Ili EG, Dogan T et al (2022) Whole-exome sequencing (WES) results of 50 patients with chronic kidney diseases: a perspective of Alport syndrome. Rev Assoc Med Bras (1992) 68:1282\u20131287. https:\/\/doi.org\/10.1590\/1806-9282.20220405","DOI":"10.1590\/1806-9282.20220405"},{"key":"1502_CR29","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1016\/j.nmd.2022.01.014","volume":"32","author":"AA Zambon","year":"2022","unstructured":"Zambon AA, Abel F, Linnane B, O\u2019Rourke D, Phadke R, Sewry CA, Sarkozy A et al (2022) Troponin-T type 1 (TNNT1)-related nemaline myopathy: unique respiratory phenotype and muscle pathology findings. Neuromuscul Disord 32:245\u2013254. https:\/\/doi.org\/10.1016\/j.nmd.2022.01.014","journal-title":"Neuromuscul Disord"}],"container-title":["Genes & Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13258-024-01502-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s13258-024-01502-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13258-024-01502-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,17]],"date-time":"2024-04-17T12:10:12Z","timestamp":1713355812000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s13258-024-01502-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2,16]]},"references-count":29,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2024,5]]}},"alternative-id":["1502"],"URL":"https:\/\/doi.org\/10.1007\/s13258-024-01502-0","relation":{},"ISSN":["1976-9571","2092-9293"],"issn-type":[{"value":"1976-9571","type":"print"},{"value":"2092-9293","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,2,16]]},"assertion":[{"value":"1 December 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 February 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 February 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"All authors have no relevant financial or nonfinancial interests to disclose.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"Informed consent forms for medical examinations, and genetic analysis were obtained from all participants and their legal representatives; the procedures were conducted in accordance with the Helsinki Declaration, and the Ethics Committee of Hospital approved the relevant studies (KAEK\/16.08.2023.357).","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}}]}}