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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...

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Detalles Bibliográficos
Autores principales: Dias, Rafael, Aguiar, Teresa C
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
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