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 benefit...
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| Format: | Article |
| Language: | English |
| Published: |
PAGEPress Publications
2025-06-01
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| Series: | European Journal of Translational Myology |
| Subjects: | |
| Online Access: | https://www.pagepressjournals.org/bam/article/view/13832 |
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| Summary: | 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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| ISSN: | 2037-7452 2037-7460 |