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Before scoliosis can be attributed to the variant c 326G A in MYH3, its pathogenicity must be proven #MMPMID40586490
Finsterer J
Eur J Transl Myol 2025[Jun]; ä (ä): ä PMID40586490show ga
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. [...].