Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy

Desmin is a class III intermediate filament protein highly expressed in cardiac, smooth and striated muscle. Autosomal dominant or recessive mutations in the desmin gene (DES) result in a variety of diseases, including cardiomyopathies and myofibrillar myopathy, collectively called desminopathies. H...

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Detalles Bibliográficos
Autores principales: Papadopoulos, Constantinos, Malfatti, Edoardo, Métay, Corinne, Keren, Boris, Lejeune, Elodie, Buratti, Julien, Xirou, Sophia, Chrysanthou-Piterou, Margarita, Papadimas, George K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10342265/
https://www.ncbi.nlm.nih.gov/pubmed/37446359
http://dx.doi.org/10.3390/ijms241311181

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10342265/
https://www.ncbi.nlm.nih.gov/pubmed/37446359
http://dx.doi.org/10.3390/ijms241311181

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