AUTHOR=Yeow Dennis , Katz Matthew , Henderson Robert , Prasad Sandhir , Denman Russell , Blum Stefan , Davis Mark , Robertson Thomas , McCombe Pamela 

TITLE=Phenotypic variability within the desminopathies: A case series of three patients

JOURNAL=Frontiers in Neurology

VOLUME=Volume 13 - 2022

YEAR=2023

URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2022.1110934

DOI=10.3389/fneur.2022.1110934

ISSN=1664-2295

ABSTRACT=Desmin is a skeletal and cardiac muscle intermediate filament encoded by the DES gene. Pathogenic variants in DES produce a range of skeletal and cardiac muscles disorders collectively known as the desminopathies. We report three desminopathy cases which highlight the phenotypic heterogeneity of this disorder and discuss various factors that may contribute to the clinical differences seen between patients with different desmin variants and also between family members with the same variant.