Atypical Phenotype of Myotonic Dystrophy Type 1 with Variant Repeats at the Age of Diagnosis
Myotonic dystrophy type 1 (DM1) is caused by an expansion of CTG repeats in the <i>DMPK</i> gene. In a proportion of patients, the expanded allele contains variant repeats, which have been associated with later disease onset and different clinical presentation, although their full impact remains inc...
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| Автори: | , , , , , , , |
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| Формат: | Artigo |
| Мова: | Inglês |
| Опубліковано: |
MDPI AG
2026-07-01
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| Серія: | Biology |
| Предмети: | |
| Онлайн доступ: | https://www.mdpi.com/2079-7737/15/13/1081 |
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