Before scoliosis can be attributed to the variant c.326G>A in MYH3, its pathogenicity must be proven.

IF 1.8 Q3 MEDICINE, RESEARCH & EXPERIMENTAL
Josef Finsterer
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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. [...].

在脊柱侧凸可归因于MYH3中的c.326G>A变异之前,必须证明其致病性。
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。[…]。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
European Journal of Translational Myology
European Journal of Translational Myology MEDICINE, RESEARCH & EXPERIMENTAL-
CiteScore
3.30
自引率
27.30%
发文量
74
审稿时长
10 weeks
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