{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,28]],"date-time":"2026-07-28T18:11:19Z","timestamp":1785262279386,"version":"3.55.0"},"reference-count":36,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2020,6,23]],"date-time":"2020-06-23T00:00:00Z","timestamp":1592870400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2020,6,23]],"date-time":"2020-06-23T00:00:00Z","timestamp":1592870400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Kaohsiung Medical Univeristy Hospital","award":["KMUH103-3R32"],"award-info":[{"award-number":["KMUH103-3R32"]}]},{"name":"Kaohsiung Medical University Hospital","award":["KMUH104-4R35"],"award-info":[{"award-number":["KMUH104-4R35"]}]},{"name":"Kaohsiung Medical University Hospital","award":["KMUH106-6R46"],"award-info":[{"award-number":["KMUH106-6R46"]}]},{"DOI":"10.13039\/501100004663","name":"Ministry of Science and Technology, Taiwan","doi-asserted-by":"publisher","award":["MOST 106-2314-B-037-100-MY3"],"award-info":[{"award-number":["MOST 106-2314-B-037-100-MY3"]}],"id":[{"id":"10.13039\/501100004663","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n<jats:title>Background<\/jats:title>\n<jats:p>Limb-girdle muscular dystrophy (LGMD) is a genetically heterogeneous, hereditary disease characterized by limb-girdle weakness and histologically dystrophic changes. The prevalence of each subtype of LGMD varies among different ethnic populations. This study for the first time analyzed the phenotypes and genotypes in Taiwanese patients with LGMD in a referral center for neuromuscular diseases (NMDs).<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Results<\/jats:title>\n<jats:p>We enrolled 102 patients clinically suspected of having LGMD who underwent muscle biopsy with subsequent genetic analysis in the previous 10\u2009years. On the basis of different pathological categories, we performed sequencing of target genes or panel for NMDs and then identified patients with type 1B, 1E, 2A, 2B, 2D, 2I, 2G, 2\u2009N, and 2Q. The 1B patients with <jats:italic>LMNA<\/jats:italic> mutation presented with mild limb-girdle weakness but no conduction defect at the time. All 1E patients with <jats:italic>DES<\/jats:italic> mutation exhibited predominantly proximal weakness along with distal weakness. In our cohort, 2B and 2I were the most frequent forms of LGMD; several common or founder mutations were identified, including c.1097_1099delACA (p.Asn366del) in <jats:italic>DES<\/jats:italic>, homozygous c.101G\u2009&gt;\u2009T (p.Arg34Leu) in <jats:italic>SGCA<\/jats:italic>, homozygous c.26_33dup (p.Glu12Argfs*20) in <jats:italic>TCAP<\/jats:italic>, c.545A\u2009&gt;\u2009G (p.Tyr182Cys), and c.948delC (p.Cys317Alafs*111) in <jats:italic>FKRP<\/jats:italic>. Clinically, the prevalence of dilated cardiomyopathy in our patients with LGMD2I aged &gt;\u200918\u2009years was 100%, much higher than that in European cohorts. The only patient with LGMD2Q with <jats:italic>PLEC<\/jats:italic> mutation did not exhibit skin lesions or gastrointestinal abnormalities but had mild facial weakness. Muscle imaging of LGMD1E and 2G revealed a more uniform involvement than did other LGMD types.<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Conclusion<\/jats:title>\n<jats:p>Our study revealed that detailed clinical manifestation together with muscle pathology and imaging remain critical in guiding further molecular analyses and are crucial for establishing genotype\u2013phenotype correlations. We also determined the common mutations and prevalence for different subtypes of LGMD in our cohort, which could be useful when providing specific care and personalized therapy to patients with LGMD.<\/jats:p>\n<\/jats:sec>","DOI":"10.1186\/s13023-020-01445-1","type":"journal-article","created":{"date-parts":[[2020,6,23]],"date-time":"2020-06-23T11:03:07Z","timestamp":1592910187000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy"],"prefix":"10.1186","volume":"15","author":[{"given":"Wen-Chen","family":"Liang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1735-1101","authenticated-orcid":false,"given":"Yuh-Jyh","family":"Jong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chien-Hua","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chen-Hua","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xia","family":"Tian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wan-Zi","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tzu-Min","family":"Kan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Narihiro","family":"Minami","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ichizo","family":"Nishino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lee-Jun C.","family":"Wong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,6,23]]},"reference":[{"key":"1445_CR1","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1002\/mus.26077","volume":"58","author":"T Liewluck","year":"2018","unstructured":"Liewluck T, Milone M. Untangling the complexity of limb-girdle muscular dystrophies. Muscle Nerve. 2018;58:167\u201377.","journal-title":"Muscle Nerve"},{"key":"1445_CR2","doi-asserted-by":"publisher","first-page":"561","DOI":"10.1038\/s41586-019-1076-8","volume":"568","author":"S Iyer","year":"2019","unstructured":"Iyer S, Suresh S, Guo D, Daman K, Chen JCJ, Liu P, et al. Precise therapeutic gene correction by a simple nuclease-induced double-stranded break. Nature. 2019;568:561\u20135.","journal-title":"Nature"},{"key":"1445_CR3","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1093\/brain\/awq294","volume":"134","author":"D Hicks","year":"2011","unstructured":"Hicks D, Sarkozy A, Muelas N, Koehler K, Huebner A, Hudson G, et al. A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy. Brain. 2011;134:171\u201382.","journal-title":"Brain"},{"key":"1445_CR4","doi-asserted-by":"publisher","first-page":"163","DOI":"10.1017\/cjn.2015.311","volume":"43","author":"JK Mah","year":"2016","unstructured":"Mah JK, Korngut L, Fiest KM, Dykeman J, Day LJ, Pringsheim T, et al. A systematic review and meta-analysis on the epidemiology of the muscular dystrophies. Can J Neurol Sci. 2016;43:163\u201377.","journal-title":"Can J Neurol Sci"},{"key":"1445_CR5","doi-asserted-by":"publisher","first-page":"154","DOI":"10.1186\/s12883-014-0154-7","volume":"14","author":"K Stehlikova","year":"2014","unstructured":"Stehlikova K, Skalova D, Zidkova J, Mrazova L, Vondracek P, Mazanec R, et al. Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic. BMC Neurol. 2014;14:154.","journal-title":"BMC Neurol"},{"key":"1445_CR6","doi-asserted-by":"publisher","first-page":"1515","DOI":"10.3892\/mmr.2014.2048","volume":"9","author":"OA Mahmood","year":"2014","unstructured":"Mahmood OA, Jiang XM. Limb-girdle muscular dystrophies: where next after six decades from the first proposal (review). Mol Med Rep. 2014;9:1515\u201332.","journal-title":"Mol Med Rep"},{"key":"1445_CR7","doi-asserted-by":"publisher","first-page":"3175","DOI":"10.1093\/brain\/awp236","volume":"132","author":"FL Norwood","year":"2009","unstructured":"Norwood FL, Harling C, Chinnery PF, Eagle M, Bushby K, Straub V. Prevalence of genetic muscle disease in northern England: in-depth analysis of a muscle clinic population. Brain. 2009;132:3175\u201386.","journal-title":"Brain"},{"key":"1445_CR8","doi-asserted-by":"publisher","first-page":"258","DOI":"10.1002\/humu.20642","volume":"29","author":"M Guglieri","year":"2008","unstructured":"Guglieri M, Magri F, D'Angelo MG, Prelle A, Morandi L, Rodolico C, et al. Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. Hum Mutat. 2008;29:258\u201366.","journal-title":"Hum Mutat"},{"key":"1445_CR9","doi-asserted-by":"publisher","first-page":"218","DOI":"10.1016\/j.nmd.2004.11.003","volume":"15","author":"M Fanin","year":"2005","unstructured":"Fanin M, Nascimbeni AC, Fulizio L, Angelini C. The frequency of limb girdle muscular dystrophy 2A in northeastern Italy. Neuromuscul Disord. 2005;15:218\u201324.","journal-title":"Neuromuscul Disord"},{"key":"1445_CR10","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1016\/j.nmd.2010.08.008","volume":"21","author":"E Stensland","year":"2011","unstructured":"Stensland E, Lindal S, Jonsrud C, Torbergsen T, Bindoff LA, Rasmussen M, et al. Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with limb girdle muscular dystrophy 2I. Neuromuscul Disord. 2011;21:41\u20136.","journal-title":"Neuromuscul Disord"},{"key":"1445_CR11","doi-asserted-by":"publisher","first-page":"808","DOI":"10.1002\/ana.20824","volume":"59","author":"ML Sveen","year":"2006","unstructured":"Sveen ML, Schwartz M, Vissing J. High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark. Ann Neurol. 2006;59:808\u201315.","journal-title":"Ann Neurol"},{"key":"1445_CR12","doi-asserted-by":"publisher","first-page":"779","DOI":"10.1016\/S0960-8966(03)00136-6","volume":"13","author":"M Kefi","year":"2003","unstructured":"Kefi M, Amouri R, Driss A, Ben Hamida C, Ben Hamida M, Kunkel LM, et al. Phenotype and sarcoglycan expression in Tunisian LGMD 2C patients sharing the same del521-T mutation. Neuromuscul Disord. 2003;13:779\u201387.","journal-title":"Neuromuscul Disord"},{"key":"1445_CR13","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1186\/s13023-018-0859-6","volume":"13","author":"L Wang","year":"2018","unstructured":"Wang L, Zhang VW, Li S, Li H, Sun Y, Li J, et al. The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients. Orphanet J Rare Dis. 2018;13:133.","journal-title":"Orphanet J Rare Dis"},{"key":"1445_CR14","doi-asserted-by":"publisher","first-page":"484","DOI":"10.1111\/cge.12621","volume":"89","author":"MW Seong","year":"2016","unstructured":"Seong MW, Cho A, Park HW, Seo SH, Lim BC, Seol D, et al. Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience. Clin Genet. 2016;89:484\u20138.","journal-title":"Clin Genet"},{"key":"1445_CR15","doi-asserted-by":"publisher","first-page":"675","DOI":"10.1016\/j.nmd.2013.05.010","volume":"23","author":"WC Liang","year":"2013","unstructured":"Liang WC, Hayashi YK, Ogawa M, Wang CH, Huang WT, Nishino I, et al. Limb-girdle muscular dystrophy type 2I is not rare in Taiwan. Neuromuscul Disord. 2013;23:675\u201381.","journal-title":"Neuromuscul Disord"},{"key":"1445_CR16","doi-asserted-by":"publisher","first-page":"946","DOI":"10.1259\/0007-1285-63-756-946","volume":"63","author":"AE Lamminen","year":"1990","unstructured":"Lamminen AE. Magnetic resonance imaging of primary skeletal muscle diseases: patterns of distribution and severity of involvement. Br J Radiol. 1990;63:946\u201350.","journal-title":"Br J Radiol"},{"key":"1445_CR17","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000015","volume":"1","author":"X Tian","year":"2015","unstructured":"Tian X, Liang WC, Feng Y, Wang J, Zhang VW, Chou CH, et al. Expanding genotype\/phenotype of neuromuscular diseases by comprehensive target capture\/NGS. Neurol Genet. 2015;1:e14.","journal-title":"Neurol Genet"},{"key":"1445_CR18","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0170517","volume":"12","author":"WC Liang","year":"2017","unstructured":"Liang WC, Tian X, Yuo CY, Chen WZ, Kan TM, Su YN, et al. Comprehensive target capture\/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan. PLoS One. 2017;12:e0170517.","journal-title":"PLoS One"},{"key":"1445_CR19","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405\u201324.","journal-title":"Genet Med"},{"key":"1445_CR20","doi-asserted-by":"publisher","first-page":"209","DOI":"10.3233\/JND-160151","volume":"3","author":"J Punetha","year":"2016","unstructured":"Punetha J, Kesari A, Uapinyoying P, Giri M, Clarke NF, Waddell LB, et al. Targeted re-sequencing emulsion PCR panel for myopathies: results in 94 cases. J Neuromuscul Dis. 2016;3:209\u201325.","journal-title":"J Neuromuscul Dis"},{"key":"1445_CR21","doi-asserted-by":"publisher","first-page":"62","DOI":"10.1016\/j.pedneo.2013.01.018","volume":"56","author":"CH Wang","year":"2015","unstructured":"Wang CH, Liang WC, Minami N, Nishino I, Jong YJ. Limb-girdle muscular dystrophy type 2a with mutation in CAPN3: the first report in Taiwan. Pediatr Neonatol. 2015;56:62\u20135.","journal-title":"Pediatr Neonatol"},{"key":"1445_CR22","doi-asserted-by":"publisher","first-page":"2136","DOI":"10.1212\/WNL.57.11.2136","volume":"57","author":"E Gallardo","year":"2001","unstructured":"Gallardo E, Rojas-Garcia R, de Luna N, Pou A, Brown RH Jr, Illa I. Inflammation in dysferlin myopathy: immunohistochemical characterization of 13 patients. Neurology. 2001;57:2136\u20138.","journal-title":"Neurology"},{"key":"1445_CR23","doi-asserted-by":"publisher","first-page":"304","DOI":"10.1016\/j.jns.2016.02.002","volume":"362","author":"WC Liang","year":"2016","unstructured":"Liang WC, Chou PC, Hung CC, Su YN, Kan TM, Chen WZ, et al. Probable high prevalence of limb-girdle muscular dystrophy type 2D in Taiwan. J Neurol Sci. 2016;362:304\u20138.","journal-title":"J Neurol Sci"},{"key":"1445_CR24","doi-asserted-by":"publisher","first-page":"1013","DOI":"10.1038\/jhg.2016.94","volume":"61","author":"X Fu","year":"2016","unstructured":"Fu X, Yang H, Wei C, Jiao H, Wang S, Yang Y, et al. FKRP mutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathies. J Hum Genet. 2016;61:1013\u201320.","journal-title":"J Hum Genet"},{"key":"1445_CR25","doi-asserted-by":"publisher","first-page":"923","DOI":"10.1038\/sj.ejhg.5201066","volume":"11","author":"F de Paula","year":"2003","unstructured":"de Paula F, Vieira N, Starling A, Yamamoto LU, Lima B, de Cassia PR, et al. Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum. Eur J Hum Genet. 2003;11:923\u201330.","journal-title":"Eur J Hum Genet"},{"key":"1445_CR26","doi-asserted-by":"publisher","first-page":"1405","DOI":"10.1136\/jnnp.2007.141804","volume":"80","author":"H Bourteel","year":"2009","unstructured":"Bourteel H, Vermersch P, Cuisset JM, Maurage CA, Laforet P, Richard P, et al. Clinical and mutational spectrum of limb-girdle muscular dystrophy type 2I in 11 French patients. J Neurol Neurosurg Psychiatry. 2009;80:1405\u20138.","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"1445_CR27","doi-asserted-by":"publisher","first-page":"650","DOI":"10.1016\/j.nmd.2008.06.365","volume":"18","author":"K Wahbi","year":"2008","unstructured":"Wahbi K, Meune C, Hamouda e H, Stojkovic T, Laforet P, Becane HM, et al. Cardiac assessment of limb-girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study. Neuromuscul Disord. 2008;18:650\u20135.","journal-title":"Neuromuscul Disord"},{"key":"1445_CR28","doi-asserted-by":"publisher","first-page":"403","DOI":"10.1016\/j.ijcard.2014.12.090","volume":"182","author":"H Petri","year":"2015","unstructured":"Petri H, Sveen ML, Thune JJ, Vissing C, Dahlqvist JR, Witting N, et al. Progression of cardiac involvement in patients with limb-girdle type 2 and Becker muscular dystrophies: a 9-year follow-up study. Int J Cardiol. 2015;182:403\u201311.","journal-title":"Int J Cardiol"},{"key":"1445_CR29","doi-asserted-by":"publisher","first-page":"104","DOI":"10.1136\/jmedgenet-2016-104073","volume":"54","author":"A Nishikawa","year":"2017","unstructured":"Nishikawa A, Mitsuhashi S, Miyata N, Nishino I. Targeted massively parallel sequencing and histological assessment of skeletal muscles for the molecular diagnosis of inherited muscle disorders. J Med Genet. 2017;54:104\u201310.","journal-title":"J Med Genet"},{"key":"1445_CR30","doi-asserted-by":"publisher","first-page":"814","DOI":"10.1016\/j.nmd.2007.06.180","volume":"17","author":"W Yee","year":"2007","unstructured":"Yee W, Pramono Z, Tan C, Kathirravelu P, Lai P. Limb girdle muscular dystrophy 2G and novel TCAP mutations in ethnic Chinese. Neurmuscul Disord. 2007;17:814.","journal-title":"Neurmuscul Disord"},{"key":"1445_CR31","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, et al. Novel TCAP mutation c.32C>a causing limb girdle muscular dystrophy 2G. PLoS One. 2014;9:e102763.","journal-title":"PLoS One"},{"key":"1445_CR32","doi-asserted-by":"publisher","first-page":"465","DOI":"10.1002\/mus.25369","volume":"55","author":"M Mori-Yoshimura","year":"2017","unstructured":"Mori-Yoshimura M, Segawa K, Minami N, Oya Y, Komaki H, Nonaka I, et al. Cardiopulmonary dysfunction in patients with limb-girdle muscular dystrophy 2A. Muscle Nerve. 2017;55:465\u20139.","journal-title":"Muscle Nerve"},{"key":"1445_CR33","doi-asserted-by":"publisher","first-page":"394","DOI":"10.1002\/mus.24741","volume":"53","author":"A Nishikawa","year":"2016","unstructured":"Nishikawa A, Mori-Yoshimura M, Segawa K, Hayashi YK, Takahashi T, Saito Y, et al. Respiratory and cardiac function in japanese patients with dysferlinopathy. Muscle Nerve. 2016;53:394\u2013401.","journal-title":"Muscle Nerve"},{"key":"1445_CR34","doi-asserted-by":"publisher","first-page":"506","DOI":"10.1136\/jnnp-2017-317018","volume":"89","author":"ST Ostergaard","year":"2018","unstructured":"Ostergaard ST, Johnson K, Stojkovic T, Krag T, De Ridder W, De Jonghe P, et al. Limb girdle muscular dystrophy due to mutations in POMT2. J Neurol Neurosurg Psychiatry. 2018;89:506\u201312.","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"1445_CR35","first-page":"60","volume":"18","author":"Z Fattahi","year":"2015","unstructured":"Fattahi Z, Kahrizi K, Nafissi S, Fadaee M, Abedini SS, Kariminejad A, et al. Report of a patient with limb-girdle muscular dystrophy, ptosis and ophthalmoparesis caused by plectinopathy. Arch Iran Med. 2015;18:60\u20134.","journal-title":"Arch Iran Med"},{"key":"1445_CR36","doi-asserted-by":"publisher","first-page":"331","DOI":"10.1016\/j.nmd.2011.10.018","volume":"22","author":"CH Wang","year":"2012","unstructured":"Wang CH, Leung M, Liang WC, Hsieh TJ, Chen TH, Jong YJ. Correlation between muscle involvement, phenotype and D4Z4 fragment size in facioscapulohumeral muscular dystrophy. Neuromuscul Disord. 2012;22:331\u20138.","journal-title":"Neuromuscul Disord"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-020-01445-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13023-020-01445-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-020-01445-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,6,23]],"date-time":"2021-06-23T00:34:12Z","timestamp":1624408452000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-020-01445-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,6,23]]},"references-count":36,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,12]]}},"alternative-id":["1445"],"URL":"https:\/\/doi.org\/10.1186\/s13023-020-01445-1","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,6,23]]},"assertion":[{"value":"18 February 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 June 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 June 2020","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"This study was approved by the Institutional Review Board of Kaohsiung Medical University Hospital. Informed consent was obtained from patients for NGS analysis.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable. The Institutional Review Board of Kaohsiung Medical University Hospital has approved this study and its consequent publication.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"160"}}