Dysferlinopathy as cause of long-term hyperCKemia with preserved strength
Abstract Background Dysferlin (DYSF) has a crucial role in sarcolemmal repair. While DYSF mutations commonly manifest as limb-girdle muscular dystrophy (LGMDR2) or distal Miyoshi myopathy, atypical manifestations, such as asymptomatic hyperCKemia and pseudometabolic myopathy, are rarely reported. We...
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| Auteurs principaux: | , , , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
BMC
2025-06-01
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| Collection: | Orphanet Journal of Rare Diseases |
| Accès en ligne: | https://doi.org/10.1186/s13023-025-03850-w |
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