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

Mutations in the human desmin gene (DES) 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 associated with progressive...

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Detalles Bibliográficos
Autores principales: Onore, Maria Elena, Savarese, Marco, Picillo, Esther, Passamano, Luigia, Nigro, Vincenzo, Politano, Luisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9785402/
https://www.ncbi.nlm.nih.gov/pubmed/36555543
http://dx.doi.org/10.3390/ijms232415906

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