Bi-Allelic <i>DES</i> Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function

Bi-Allelic <i>DES</i> Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function

Mutations in the human desmin gene (<i>DES)</i> may cause both autosomal dominant and recessive cardiomyopathies leading to heart failure, arrhythmias and atrio-ventricular blocks, or progressive myopathies. Cardiac conduction disorders, arrhythmias and cardiomyopathies usually associate...

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Bibliographic Details
Main Authors: Maria Elena Onore, Marco Savarese, Esther Picillo, Luigia Passamano, Vincenzo Nigro, Luisa Politano
Format: Article
Language:English
Published: MDPI AG 2022-12-01
Series:International Journal of Molecular Sciences
Subjects:
desminopathies
desmin
<i>DES</i> gene
cardiomyopathies
heart failure
distal myopathies
Online Access:https://www.mdpi.com/1422-0067/23/24/15906

Internet

https://www.mdpi.com/1422-0067/23/24/15906

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