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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Publication Details

Journal
European Journal of Translational Myology
Published
2025-06-27
DOI
https://doi.org/10.4081/ejtm.2025.13832
Primary Topic
Genetic factors in colorectal cancer
Type
article
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article

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

Josef Finsterer
European Journal of Translational Myology
Genetic factors in colorectal cancer
article

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

Josef Finsterer
article en

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. [...].

European Journal of Translational MyologyVol. 35(3)
Yahoo (Spain) (ES), Research Center of Neurology (RU)
Openalex Percentile: Top 77%
Genetic factors in colorectal cancer
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