{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T15:50:14Z","timestamp":1782402614205,"version":"3.54.5"},"reference-count":29,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2020,8,6]],"date-time":"2020-08-06T00:00:00Z","timestamp":1596672000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2020,8,6]],"date-time":"2020-08-06T00:00:00Z","timestamp":1596672000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/100012620","name":"Taishan Scholar Foundation of Shandong Province","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012620","id-type":"DOI","asserted-by":"publisher"}]},{"name":"20 policy supported projects of collaborative innovation and achievement transformation in universities and research institutes in Jinan"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurogenetics"],"published-print":{"date-parts":[[2021,3]]},"DOI":"10.1007\/s10048-020-00623-4","type":"journal-article","created":{"date-parts":[[2020,8,6]],"date-time":"2020-08-06T13:03:49Z","timestamp":1596719029000},"page":"1-10","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Distal myopathy due to TCAP variants in four unrelated Chinese patients"],"prefix":"10.1007","volume":"22","author":[{"given":"Xiaoqing","family":"Lv","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fei","family":"Gao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tingjun","family":"Dai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dandan","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongzhi","family":"Geng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fuchen","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pengfei","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chuanzhu","family":"Yan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,8,6]]},"reference":[{"issue":"5","key":"623_CR1","doi-asserted-by":"publisher","first-page":"465","DOI":"10.1016\/j.nmd.2017.02.004","volume":"27","author":"HJ Park","year":"2017","unstructured":"Park HJ, Shin HY, Kim S, Kim SH, Lee Y, Lee JH, Hong J-M, Kim SM, Park KD, Choi B-O, Lee JH, Choi Y-C (2017) Distal myopathy with ADSSL1 mutations in Korean patients. Neuromuscul Disord 27(5):465\u2013472. https:\/\/doi.org\/10.1016\/j.nmd.2017.02.004","journal-title":"Neuromuscul Disord"},{"issue":"1","key":"623_CR2","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1016\/s0925-4439(02)00113-8","volume":"1588","author":"M Vainzof","year":"2002","unstructured":"Vainzof M, Moreira ES, Suzuki OT, Faulkner G, Valle G, Beggs AH, Carpen O, Ribeiro AF, Zanoteli E, Gurgel-Gianneti J, Tsanaclis AM, Silva HC, Passos-Bueno MR, Zatz M (2002) Telethonin protein expression in neuromuscular disorders. Biochim Biophys Acta 1588(1):33\u201340. https:\/\/doi.org\/10.1016\/s0925-4439(02)00113-8","journal-title":"Biochim Biophys Acta"},{"issue":"6","key":"623_CR3","doi-asserted-by":"publisher","first-page":"7874","DOI":"10.1002\/jcp.27907","volume":"234","author":"E Taghizadeh","year":"2019","unstructured":"Taghizadeh E, Rezaee M, Barreto GE, Sahebkar A (2019) Prevalence, pathological mechanisms, and genetic basis of limb-girdle muscular dystrophies: a review. J Cell Physiol 234(6):7874\u20137884. https:\/\/doi.org\/10.1002\/jcp.27907","journal-title":"J Cell Physiol"},{"issue":"4","key":"623_CR4","doi-asserted-by":"publisher","first-page":"349","DOI":"10.1016\/j.nmd.2014.12.006","volume":"25","author":"R Barresi","year":"2015","unstructured":"Barresi R, Morris C, Hudson J, Curtis E, Pickthall C, Bushby K, Davies NP, Straub V (2015) Conserved expression of truncated telethonin in a patient with limb-girdle muscular dystrophy 2G. Neuromuscul Disord 25(4):349\u2013352. https:\/\/doi.org\/10.1016\/j.nmd.2014.12.006","journal-title":"Neuromuscul Disord"},{"issue":"6","key":"623_CR5","doi-asserted-by":"publisher","first-page":"532","DOI":"10.1016\/j.nmd.2018.04.006","volume":"28","author":"R Brusa","year":"2018","unstructured":"Brusa R, Magri F, Papadimitriou D, Govoni A, Del Bo R, Ciscato P, Savarese M, Cinnante C, Walter MC, Abicht A, Bulst S, Corti S, Moggio M, Bresolin N, Nigro V, Comi GP (2018) A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature. Neuromuscul Disord 28(6):532\u2013537. https:\/\/doi.org\/10.1016\/j.nmd.2018.04.006","journal-title":"Neuromuscul Disord"},{"issue":"11","key":"623_CR6","doi-asserted-by":"publisher","first-page":"749","DOI":"10.1016\/j.nmd.2016.07.003","volume":"26","author":"CP de Fuenmayor-Fernandez de la Hoz","year":"2016","unstructured":"de Fuenmayor-Fernandez de la Hoz CP, Hernandez-Lain A, Olive M, Fernandez-Marmiesse A, Dominguez-Gonzalez C (2016) Novel mutation in TCAP manifesting with asymmetric calves and early-onset joint retractions. Neuromuscul Disord 26(11):749\u2013753. https:\/\/doi.org\/10.1016\/j.nmd.2016.07.003","journal-title":"Neuromuscul Disord"},{"issue":"8","key":"623_CR7","doi-asserted-by":"publisher","first-page":"625","DOI":"10.1016\/j.nmd.2018.05.005","volume":"28","author":"T Chamova","year":"2018","unstructured":"Chamova T, Bichev S, Todorov T, Gospodinova M, Taneva A, Kastreva K, Zlatareva D, Krupev M, Hadjiivanov R, Guergueltcheva V, Grozdanova L, Tzoneva D, Huebner A, VdH M, Schoser B, Lochmuller H, Todorova A, Tournev I (2018) Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation. Neuromuscul Disord 28(8):625\u2013632. https:\/\/doi.org\/10.1016\/j.nmd.2018.05.005","journal-title":"Neuromuscul Disord"},{"issue":"9","key":"623_CR8","doi-asserted-by":"publisher","first-page":"856","DOI":"10.1016\/j.nmd.2017.05.017","volume":"27","author":"E Ikenberg","year":"2017","unstructured":"Ikenberg E, Karin I, Ertl-Wagner B, Abicht A, Bulst S, Krause S, Schoser B, Reilich P, Walter MC (2017) Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient. Neuromuscul Disord 27(9):856\u2013860. https:\/\/doi.org\/10.1016\/j.nmd.2017.05.017","journal-title":"Neuromuscul Disord"},{"issue":"1","key":"623_CR9","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1086\/513889","volume":"61","author":"ES Moreira","year":"1997","unstructured":"Moreira ES, Vainzof M, Marie SK, Sertie AL, Zatz M, Passos-Bueno MR (1997) The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12. Am J Hum Genet 61(1):151\u2013159. https:\/\/doi.org\/10.1086\/513889","journal-title":"Am J Hum Genet"},{"key":"623_CR10","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1186\/1472-6890-14-41","volume":"14","author":"A Cotta","year":"2014","unstructured":"Cotta A, Paim JF, da-Cunha-Junior AL, Neto RX, Nunes SV, Navarro MM, Valicek J, Carvalho E, Yamamoto LU, Almeida CF, Braz SV, Takata RI, Vainzof M (2014) Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image pattern. BMC Clin Pathol 14:41. https:\/\/doi.org\/10.1186\/1472-6890-14-41","journal-title":"BMC Clin Pathol"},{"issue":"4","key":"623_CR11","doi-asserted-by":"publisher","first-page":"476","DOI":"10.3760\/cma.j.issn.1003-9406.2014.04.014","volume":"31","author":"W Wang","year":"2014","unstructured":"Wang W, Hao Y, Wang R, Jin M, Jiao J (2014) Limb-girdle muscular dystrophy type 2G: clinical, pathological and genetic analysis of a case. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 31(4):476\u2013478. https:\/\/doi.org\/10.3760\/cma.j.issn.1003-9406.2014.04.014","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"},{"issue":"2","key":"623_CR12","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1016\/j.nmd.2019.12.004","volume":"30","author":"H Chen","year":"2020","unstructured":"Chen H, Xu G, Lin F, Jin M, Cai N, Qiu L, Ye Z, Wang L, Lin M, Wang N (2020) Clinical and genetic characterization of limb girdle muscular dystrophy R7 telethonin-related patients from three unrelated Chinese families. Neuromuscul Disord 30(2):137\u2013143. https:\/\/doi.org\/10.1016\/j.nmd.2019.12.004","journal-title":"Neuromuscul Disord"},{"issue":"4","key":"623_CR13","doi-asserted-by":"publisher","first-page":"900","DOI":"10.1007\/s13311-018-0671-y","volume":"15","author":"N Carrillo","year":"2018","unstructured":"Carrillo N, Malicdan MC, Huizing M (2018) GNE myopathy: etiology, diagnosis, and therapeutic challenges. Neurotherapeutics 15(4):900\u2013914. https:\/\/doi.org\/10.1007\/s13311-018-0671-y","journal-title":"Neurotherapeutics"},{"issue":"1\u20132","key":"623_CR14","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1016\/j.jns.2015.04.028","volume":"354","author":"J Zhao","year":"2015","unstructured":"Zhao J, Wang Z, Hong D, Lv H, Zhang W, Chen J, Yuan Y (2015) Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy. J Neurol Sci 354(1\u20132):21\u201326. https:\/\/doi.org\/10.1016\/j.jns.2015.04.028","journal-title":"J Neurol Sci"},{"issue":"1","key":"623_CR15","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1038\/s10038-018-0525-9","volume":"64","author":"Y Chen","year":"2019","unstructured":"Chen Y, Xi J, Zhu W, Lin J, Luo S, Yue D, Cai S, Sun C, Zhao C, Mitsuhashi S, Nishino I, Xu M, Lu J (2019) GNE myopathy in Chinese population: hotspot and novel mutations. J Hum Genet 64(1):11\u201316. https:\/\/doi.org\/10.1038\/s10038-018-0525-9","journal-title":"J Hum Genet"},{"issue":"3","key":"623_CR16","doi-asserted-by":"publisher","first-page":"265","DOI":"10.1212\/WNL.0b013e3181e8e8f1","volume":"75","author":"A Broccolini","year":"2010","unstructured":"Broccolini A, Gidaro T, Tasca G, Morosetti R, Rodolico C, Ricci E, Mirabella M (2010) Analysis of NCAM helps identify unusual phenotypes of hereditary inclusion-body myopathy. Neurology 75(3):265\u2013272. https:\/\/doi.org\/10.1212\/WNL.0b013e3181e8e8f1","journal-title":"Neurology"},{"issue":"7","key":"623_CR17","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0102763","volume":"9","author":"A Francis","year":"2014","unstructured":"Francis A, Sunitha B, Vinodh K, Polavarapu K, Katkam SK, Modi S, Bharath MM, Gayathri N, Nalini A, Thangaraj K (2014) Novel TCAP mutation c.32C>A causing limb girdle muscular dystrophy 2G. PLoS One 9(7):e102763. https:\/\/doi.org\/10.1371\/journal.pone.0102763","journal-title":"PLoS One"},{"issue":"1","key":"623_CR18","first-page":"21","volume":"29","author":"L Negrao","year":"2010","unstructured":"Negrao L, Matos A, Geraldo A, Rebelo O (2010) Limb-girdle muscular dystrophy in a Portuguese patient caused by a mutation in the telethonin gene. Acta Myol 29(1):21\u201324","journal-title":"Acta Myol"},{"issue":"12","key":"623_CR19","doi-asserted-by":"publisher","first-page":"929","DOI":"10.1016\/j.nmd.2008.07.009","volume":"18","author":"M Olive","year":"2008","unstructured":"Olive M, Shatunov A, Gonzalez L, Carmona O, Moreno D, Quereda LG, Martinez-Matos JA, Goldfarb LG, Ferrer I (2008) Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient. Neuromuscul Disord 18(12):929\u2013933. https:\/\/doi.org\/10.1016\/j.nmd.2008.07.009","journal-title":"Neuromuscul Disord"},{"issue":"2","key":"623_CR20","doi-asserted-by":"publisher","first-page":"339","DOI":"10.1007\/s12031-013-9987-6","volume":"50","author":"JF Paim","year":"2013","unstructured":"Paim JF, Cotta A, Vargas AP, Navarro MM, Valicek J, Carvalho E, da-Cunha AL Jr, Plentz E, Braz SV, Takata RI, Almeida CF, Vainzof M (2013) Muscle phenotypic variability in limb girdle muscular dystrophy 2 G. J Mol Neurosci 50(2):339\u2013344. https:\/\/doi.org\/10.1007\/s12031-013-9987-6","journal-title":"J Mol Neurosci"},{"issue":"2","key":"623_CR21","doi-asserted-by":"publisher","first-page":"163","DOI":"10.1038\/72822","volume":"24","author":"ES Moreira","year":"2000","unstructured":"Moreira ES, Wiltshire TJ, Faulkner G, Nilforoushan A, Vainzof M, Suzuki OT, Valle G, Reeves R, Zatz M, Passos-Bueno MR, Jenne DE (2000) Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. Nat Genet 24(2):163\u2013166. https:\/\/doi.org\/10.1038\/72822","journal-title":"Nat Genet"},{"issue":"11","key":"623_CR22","doi-asserted-by":"publisher","first-page":"2268","DOI":"10.1093\/hmg\/ddq105","volume":"19","author":"CD Markert","year":"2010","unstructured":"Markert CD, Meaney MP, Voelker KA, Grange RW, Dalley HW, Cann JK, Ahmed M, Bishwokarma B, Walker SJ, Yu SX, Brown M, Lawlor MW, Beggs AH, Childers MK (2010) Functional muscle analysis of the Tcap knockout mouse. Hum Mol Genet 19(11):2268\u20132283. https:\/\/doi.org\/10.1093\/hmg\/ddq105","journal-title":"Hum Mol Genet"},{"issue":"2","key":"623_CR23","doi-asserted-by":"publisher","first-page":"122","DOI":"10.1016\/j.clineuro.2003.10.010","volume":"106","author":"A Nakamura","year":"2004","unstructured":"Nakamura A, Yoshida K, Ikeda S (2004) Late-onset autosomal recessive limb-girdle muscular dystrophy with rimmed vacuoles. Clin Neurol Neurosurg 106(2):122\u2013128. https:\/\/doi.org\/10.1016\/j.clineuro.2003.10.010","journal-title":"Clin Neurol Neurosurg"},{"issue":"3","key":"623_CR24","doi-asserted-by":"publisher","first-page":"259","DOI":"10.1023\/a:1012242011109","volume":"22","author":"R Schroder","year":"2001","unstructured":"Schroder R, Reimann J, Iakovenko A, Mues A, Bonnemann CG, Matten J, Gautel M (2001) Early and selective disappearance of telethonin protein from the sarcomere in neurogenic atrophy. J Muscle Res Cell Motil 22(3):259\u2013264. https:\/\/doi.org\/10.1023\/a:1012242011109","journal-title":"J Muscle Res Cell Motil"},{"issue":"1","key":"623_CR25","doi-asserted-by":"publisher","first-page":"15555","DOI":"10.1038\/s41598-018-33930-w","volume":"8","author":"A Kuno","year":"2018","unstructured":"Kuno A, Hosoda R, Sebori R, Hayashi T, Sakuragi H, Tanabe M, Horio Y (2018) Resveratrol ameliorates mitophagy disturbance and improves cardiac pathophysiology of dystrophin-deficient mdx mice. Sci Rep 8(1):15555. https:\/\/doi.org\/10.1038\/s41598-018-33930-w","journal-title":"Sci Rep"},{"key":"623_CR26","doi-asserted-by":"publisher","first-page":"9179270","DOI":"10.1155\/2018\/9179270","volume":"2018","author":"R Sebori","year":"2018","unstructured":"Sebori R, Kuno A, Hosoda R, Hayashi T, Horio Y (2018) Resveratrol decreases oxidative stress by restoring mitophagy and improves the pathophysiology of dystrophin-deficient mdx mice. Oxidative Med Cell Longev 2018:9179270\u20139179213. https:\/\/doi.org\/10.1155\/2018\/9179270","journal-title":"Oxidative Med Cell Longev"},{"issue":"1\u20132","key":"623_CR27","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1007\/BF00210743","volume":"90","author":"M Krawczak","year":"1992","unstructured":"Krawczak M, Reiss J, Cooper DN (1992) The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 90(1\u20132):41\u201354. https:\/\/doi.org\/10.1007\/BF00210743","journal-title":"Hum Genet"},{"issue":"3","key":"623_CR28","doi-asserted-by":"publisher","first-page":"1282","DOI":"10.1074\/jbc.M113.479030","volume":"289","author":"AJ Candasamy","year":"2014","unstructured":"Candasamy AJ, Haworth RS, Cuello F, Ibrahim M, Aravamudhan S, Kruger M, Holt MR, Terracciano CM, Mayr M, Gautel M, Avkiran M (2014) Phosphoregulation of the titin-cap protein telethonin in cardiac myocytes. J Biol Chem 289(3):1282\u20131293. https:\/\/doi.org\/10.1074\/jbc.M113.479030","journal-title":"J Biol Chem"},{"issue":"4","key":"623_CR29","doi-asserted-by":"publisher","first-page":"1124","DOI":"10.1002\/dvdy.22263","volume":"239","author":"T Sadikot","year":"2010","unstructured":"Sadikot T, Hammond CR, Ferrari MB (2010) Distinct roles for telethonin N-versus C-terminus in sarcomere assembly and maintenance. Dev Dyn 239(4):1124\u20131135. https:\/\/doi.org\/10.1002\/dvdy.22263","journal-title":"Dev Dyn"}],"container-title":["neurogenetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-020-00623-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10048-020-00623-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-020-00623-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,8,6]],"date-time":"2021-08-06T00:01:28Z","timestamp":1628208088000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10048-020-00623-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,8,6]]},"references-count":29,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,3]]}},"alternative-id":["623"],"URL":"https:\/\/doi.org\/10.1007\/s10048-020-00623-4","relation":{},"ISSN":["1364-6745","1364-6753"],"issn-type":[{"value":"1364-6745","type":"print"},{"value":"1364-6753","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,8,6]]},"assertion":[{"value":"2 March 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 August 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 August 2020","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"The authors declare that they have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"Study protocols were approved by the ethics committee of Qilu Hospital, Shandong University (2018-152). Informed consent was obtained from all patients.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical statements"}}]}}