{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,5]],"date-time":"2025-11-05T13:11:23Z","timestamp":1762348283323,"version":"build-2065373602"},"reference-count":16,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2025,6,25]],"date-time":"2025-06-25T00:00:00Z","timestamp":1750809600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,6,25]],"date-time":"2025-06-25T00:00:00Z","timestamp":1750809600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2025,11]]},"abstract":"<jats:p>\n                    The\n                    <jats:italic toggle=\"yes\">TNNC2<\/jats:italic>\n                    gene is crucial for skeletal muscle function, and pathogenic variants have been linked to congenital myopathies characterized by hypotonia, muscle weakness, and respiratory insufficiency. To date,\n                    <jats:italic toggle=\"yes\">TNNC2<\/jats:italic>\n                    -related myopathies have been associated only with autosomal dominant missense variants. We report here the first family case of a recessive form of myopathy related to\n                    <jats:italic toggle=\"yes\">TNNC2<\/jats:italic>\n                    . We identified the homozygous splice variant\n                    <jats:italic toggle=\"yes\">TNNC2<\/jats:italic>\n                    (NM_003279.3):c.314\u2009+\u20091G\u2009&gt;\u2009C p.(?) in two siblings with a severe clinical presentation, resulting in one neonatal death and one medical termination of pregnancy. This variant induces a splicing defect that leads to a complete loss of the\n                    <jats:italic toggle=\"yes\">TNNC2<\/jats:italic>\n                    physiological transcript\n                    <jats:italic toggle=\"yes\">.<\/jats:italic>\n                    This case expands the spectrum of\n                    <jats:italic toggle=\"yes\">TNNC2<\/jats:italic>\n                    variants with a late-onset fetal loss. To the best of our knowledge, this is the first case reporting a recessive form of severe neonatal hypotonia due to\n                    <jats:italic toggle=\"yes\">TNNC2<\/jats:italic>\n                    variant.\n                  <\/jats:p>","DOI":"10.1177\/22143602251341413","type":"journal-article","created":{"date-parts":[[2025,6,25]],"date-time":"2025-06-25T10:33:59Z","timestamp":1750847639000},"page":"849-853","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Expanding the spectrum of\n                    <i>TNNC2<\/i>\n                    variants in neonatal hypotonia - a family report of a homozygous loss-of-function variant"],"prefix":"10.1177","volume":"12","author":[{"given":"Anthony","family":"Maino","sequence":"first","affiliation":[{"name":"CHU Grenoble Alpes"},{"name":"Grenoble Institut Neurosciences"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie","family":"Chevallier","sequence":"additional","affiliation":[{"name":"Neonatology Unit, Grenoble University Hospital, F-38000 Grenoble, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diane","family":"Giovannini","sequence":"additional","affiliation":[{"name":"Grenoble-Alpes University Hospital"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mandy","family":"Leger","sequence":"additional","affiliation":[{"name":"CHU Grenoble Alpes"},{"name":"Grenoble Institut Neurosciences"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne-Laure","family":"Coston","sequence":"additional","affiliation":[{"name":"Department of Gynecology and Obstetrics, University Hospital Grenoble Alpes, 38700, La Tronche, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nathalie","family":"Roux-Buisson","sequence":"additional","affiliation":[{"name":"CHU Grenoble Alpes"},{"name":"Grenoble Institut Neurosciences"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Herv\u00e9","family":"Testard","sequence":"additional","affiliation":[{"name":"Centre de Comp\u00e9tence des Maladies Neuromusculaires PACARARE, Neurop\u00e9diatrie, Clinique Universitaire P\u00e9diatrique, H\u00f4pital Couple Enfant - CHU Grenoble, Grenoble, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julien","family":"Thevenon","sequence":"additional","affiliation":[{"name":"Grenoble Alpes University Hospital"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabelle","family":"Marty","sequence":"additional","affiliation":[{"name":"CHU Grenoble Alpes"},{"name":"Grenoble Institut Neurosciences"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julien","family":"Faur\u00e9","sequence":"additional","affiliation":[{"name":"CHU Grenoble Alpes"},{"name":"Grenoble Institut Neurosciences"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Klaus","family":"Dieterich","sequence":"additional","affiliation":[{"name":"Grenoble Alpes University Hospital"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"Rendu","sequence":"additional","affiliation":[{"name":"CHU Grenoble Alpes"},{"name":"Grenoble Institut Neurosciences"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2025,6,25]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1996.5958"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-018-0305-1"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-023-06045-0"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1089\/1066527041410418"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2018.12.015"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awu368"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-444-64076-5.00036-3"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23385"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.3389\/fcvm.2022.1042842"},{"key":"e_1_3_3_11_2","article-title":"Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease","volume":"16","author":"Donkervoort S","unstructured":"Donkervoort S, van de Locht M, Ronchi D, et al. Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease. Sci Transl Med 3 avr 2024; 16: eadg2841.","journal-title":"Sci Transl Med"},{"key":"e_1_3_3_12_2","first-page":"3115","article-title":"Distinct troponin C isoform requirements in cardiac and skeletal muscle","volume":"239","author":"Sogah VM","unstructured":"Sogah VM, Serluca FC, Fishman MC, et al. Distinct troponin C isoform requirements in cardiac and skeletal muscle. Dev Dyn Off Publ Am Assoc Anat nov 2010; 239: 3115\u20133123.","journal-title":"Dev Dyn Off Publ Am Assoc Anat"},{"key":"e_1_3_3_13_2","article-title":"Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium","volume":"131","author":"van de Locht M","unstructured":"van de Locht M, Donkervoort S, de Winter JM, et al. Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium. J Clin Invest 3 mai 2021; 131: e145700. 145700.","journal-title":"J Clin Invest"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1097\/00019052-200410000-00003"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/bies.20269"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2019-106714"},{"key":"e_1_3_3_17_2","unstructured":"GitHub [Internet]. nf-core\/rnaseq v3.12.0 - Osmium Octopus \u00b7 nf-core\/rnaseq@3bec233. 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