Sex-dependent and muscle-specific progression of the MYBPC1 E248K Myotrem myopathy in response to aging
Dominant missense mutations in MYBPC1, the gene encoding the essential sarcomeric slow Myosin Binding Protein-C (sMyBP-C), are associated with Myotrem, a new, early-onset congenital myopathy characterized by muscle weakness, hypotonia, skeletal deformities, and myogenic tremor. Importantly, the clin...
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| Principais autores: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
American Society for Clinical investigation
2025-08-01
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| coleção: | JCI Insight |
| Assuntos: | |
| Acesso em linha: | https://doi.org/10.1172/jci.insight.182471 |
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