{"title":"Before scoliosis can be attributed to the variant c.326G>A in MYH3, its pathogenicity must be proven.","authors":"Josef Finsterer","doi":"10.4081/ejtm.2025.13832","DOIUrl":null,"url":null,"abstract":"<p><p>Dear Editor, We were interested to read the article by Maccarone et al. about a 15-year-old girl with scoliosis, growth retardation, facial dysmorphism and delayed puberty.1 Genetic testing revealed the heterozygous variant NM_002470.4(MYH3):c.326G>A (p.Arg109His) in MYH3. The patient benefited from a Lyon ARTbrace after refusing surgical correction of scoliosis.1 The study is noteworthy, but several points should be discussed. [...].</p>","PeriodicalId":46459,"journal":{"name":"European Journal of Translational Myology","volume":" ","pages":""},"PeriodicalIF":1.8000,"publicationDate":"2025-06-27","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.2025.13832","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"MEDICINE, RESEARCH & EXPERIMENTAL","Score":null,"Total":0}
引用次数: 0
Abstract
Dear Editor, We were interested to read the article by Maccarone et al. about a 15-year-old girl with scoliosis, growth retardation, facial dysmorphism and delayed puberty.1 Genetic testing revealed the heterozygous variant NM_002470.4(MYH3):c.326G>A (p.Arg109His) in MYH3. The patient benefited from a Lyon ARTbrace after refusing surgical correction of scoliosis.1 The study is noteworthy, but several points should be discussed. [...].
尊敬的编辑:我们有兴趣阅读马卡隆等人写的一篇关于一名患有脊柱侧凸、生长迟缓、面部畸形和青春期延迟的15岁女孩的文章基因检测发现杂合变异NM_002470.4(MYH3):c。326G>A (p.Arg109His) in MYH3。该患者在拒绝脊柱侧凸手术矫正后使用了Lyon ARTbrace这项研究值得注意,但有几点需要讨论。[…]。