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

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 (<i>DES</i>) result in a variety of diseases, including cardiomyopathies and myofibrillar myopathy, collectively calle...

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Bibliographic Details
Main Authors: Constantinos Papadopoulos, Edoardo Malfatti, Corinne Métay, Boris Keren, Elodie Lejeune, Julien Buratti, Sophia Xirou, Margarita Chrysanthou-Piterou, George K. Papadimas
Format: Article
Language:English
Published: MDPI AG 2023-07-01
Series:International Journal of Molecular Sciences
Subjects:
desmin
myofibrillar myopathy
cardiomyopathy
ribonucleic acid sequencing
Online Access:https://www.mdpi.com/1422-0067/24/13/11181

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https://www.mdpi.com/1422-0067/24/13/11181

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