Maria Chiara Maccarone, Matilde Paramento, Edoardo Passarotto, Paola Contessa, Maria Rubega, Emanuela Formaggio, Stefano Masiero
{"title":"在脊柱侧凸可以归因于MYH3中的c.326G>;A变异之前,必须证明其致病性。","authors":"Maria Chiara Maccarone, Matilde Paramento, Edoardo Passarotto, Paola Contessa, Maria Rubega, Emanuela Formaggio, Stefano Masiero","doi":"10.4081/ejtm.2025.14034","DOIUrl":null,"url":null,"abstract":"<p><p>Dear Editor, We appreciate the valuable comments regarding our recent case report on a 15-year-old girl presenting with scoliosis, growth retardation, facial dysmorphism, and delayed puberty, who was found to carry the heterozygous NM_002470.4(MYH3):c.326G>A (p.Arg109His) variant.1 We welcome the opportunity to address the concerns raised and to further clarify aspects of our study, as constructive scientific dialogue is important for refining our understanding of the pathophysiology of scoliosis. [...].</p>","PeriodicalId":46459,"journal":{"name":"European Journal of Translational Myology","volume":" ","pages":""},"PeriodicalIF":1.8000,"publicationDate":"2025-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Reply to <i>Before scoliosis can be attributed to the variant c.326G>A in MYH3, its pathogenicity must be proven</i>.\",\"authors\":\"Maria Chiara Maccarone, Matilde Paramento, Edoardo Passarotto, Paola Contessa, Maria Rubega, Emanuela Formaggio, Stefano Masiero\",\"doi\":\"10.4081/ejtm.2025.14034\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Dear Editor, We appreciate the valuable comments regarding our recent case report on a 15-year-old girl presenting with scoliosis, growth retardation, facial dysmorphism, and delayed puberty, who was found to carry the heterozygous NM_002470.4(MYH3):c.326G>A (p.Arg109His) variant.1 We welcome the opportunity to address the concerns raised and to further clarify aspects of our study, as constructive scientific dialogue is important for refining our understanding of the pathophysiology of scoliosis. [...].</p>\",\"PeriodicalId\":46459,\"journal\":{\"name\":\"European Journal of Translational Myology\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":1.8000,\"publicationDate\":\"2025-10-02\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"European Journal of Translational Myology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4081/ejtm.2025.14034\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/6/27 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q3\",\"JCRName\":\"MEDICINE, RESEARCH & EXPERIMENTAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"European Journal of Translational Myology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4081/ejtm.2025.14034","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/6/27 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"MEDICINE, RESEARCH & EXPERIMENTAL","Score":null,"Total":0}
Reply to Before scoliosis can be attributed to the variant c.326G>A in MYH3, its pathogenicity must be proven.
Dear Editor, We appreciate the valuable comments regarding our recent case report on a 15-year-old girl presenting with scoliosis, growth retardation, facial dysmorphism, and delayed puberty, who was found to carry the heterozygous NM_002470.4(MYH3):c.326G>A (p.Arg109His) variant.1 We welcome the opportunity to address the concerns raised and to further clarify aspects of our study, as constructive scientific dialogue is important for refining our understanding of the pathophysiology of scoliosis. [...].