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。

IF 1.8 Q3 MEDICINE, RESEARCH & EXPERIMENTAL

European Journal of Translational Myology Pub Date : 2025-06-27 DOI:10.4081/ejtm.2025.13832

Josef Finsterer

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引用次数: 0

摘要

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

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. [...].

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来源期刊

European Journal of Translational Myology MEDICINE, RESEARCH & EXPERIMENTAL-

CiteScore

3.30

自引率

27.30%

发文量

审稿时长

10 weeks