Incidental finding of a DMD exons 48–55 deletion during prenatal diagnosis
BackgroundDMD genetic variants cause a spectrum of phenotypes, from severe progressive proximal muscle weakness and degeneration leading to wheelchair dependence and death from cardiac and/or respiratory failure to very mild muscular phenotypes; very rarely, cases are completely asymptomatic. Few ca...
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| Автори: | , , , , , , , , , , , |
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| Формат: | Artigo |
| Мова: | Inglês |
| Опубліковано: |
Frontiers Media S.A.
2025-04-01
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| Серія: | Frontiers in Pediatrics |
| Предмети: | |
| Онлайн доступ: | https://www.frontiersin.org/articles/10.3389/fped.2025.1541468/full |
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