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DES c.1360C>T: A Rare Desmin Variant Causing Early Distal Myopathy and Cardiomyopathy
Desmin-related myopathies are characterized by progressive, distal skeletal muscle weakness, cardiomyopathy, and cardiac conduction disease caused by mutations of Desmin. A 43-year-old man with a history of heart transplant due to heart failure associated with restrictive cardiomyopathy, presented w...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Cureus
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10112932/ https://www.ncbi.nlm.nih.gov/pubmed/37082475 http://dx.doi.org/10.7759/cureus.36368 |