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. [...].
Authors
- Josef Finsterer (ORCID: https://orcid.org/0000-0003-2839-7305)
Institutions
- Yahoo (Spain) (ES)
- Research Center of Neurology (RU)
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
- Field-Weighted Citation Impact
- 0.00