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The relationship between the pathologies and the genetic causes is complex, and the prevalence of myopathy-causing genes varies among patients from different ethnic groups. The aim of the present study was to characterize congenital myopathies with infancy onset among patients registered at our institution.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Method<\/jats:title>\n                <jats:p>This retrospective study enrolled 56 patients based on the pathological and\/or genetic diagnosis. Clinical, histopathological and genetic features of the patients were analysed with long-term follow-up.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Twenty-six out of 43 patients who received next-generation sequencing had genetic confirmation, and <jats:italic>RYR1<\/jats:italic> variations (12\/26) were the most prevalent. Eighteen novel variations were identified in 6 disease-causing genes, including <jats:italic>RYR1<\/jats:italic>, <jats:italic>NEB, TTN, TNNT1, DNM2<\/jats:italic> and <jats:italic>ACTA1.<\/jats:italic> Nemaline myopathy (17\/55) was the most common histopathology. The onset ages ranged from birth to 1 year. Thirty-one patients were followed for 3.83\u00a0\u00b1\u00a03.05\u2009years (ranging from 3\u2009months to 11\u2009years). No patient died before 1 year. Two patients died at 5\u2009years and 8\u2009years respectively. The motor abilities were stable or improved in 23 patients and deteriorated in 6 patients. Ten (10\/31) patients developed respiratory involvement, and 9 patients (9\/31) had mildly abnormal electrocardiograms and\/or echocardiograms.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>The severity of congenital myopathies in the neonatal\/infantile period may vary in patients from different ethnic groups. More concern should be given to cardiac monitoring in patients with congenital myopathies even in those with static courses.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12887-021-03024-0","type":"journal-article","created":{"date-parts":[[2022,1,26]],"date-time":"2022-01-26T07:02:32Z","timestamp":1643180552000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Clinical and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centre"],"prefix":"10.1186","volume":"22","author":[{"given":"Yu","family":"Zhang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Yan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jieyu","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huifang","family":"Yan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yinan","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cuijie","family":"Wei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhaoxia","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Xiong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xingzhi","family":"Chang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,1,26]]},"reference":[{"issue":"2","key":"3024_CR1","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1016\/j.nmd.2013.11.003","volume":"24","author":"KN North","year":"2014","unstructured":"North KN, Wang CH, Clarke N, Jungbluth H, Vainzof M, Dowling JJ, et al. 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The patients and\/or their parents provided their written informed consent to participate in this study. All methods were performed in accordance with the relevant guidelines and regulations.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"65"}}