Expanding the Phenotypic Spectrum of Desminopathy

JACC Clin Electrophysiol. 2024 Jun;10(6):1191-1193. doi: 10.1016/j.jacep.2024.03.039.

Authors

Sophie Hespe¹, Jodie Ingles²

Affiliations

¹ Genomics and Inherited Disease Program, Garvan Institute of Medical Research, University of New South Wales (UNSW) Sydney, Sydney, New South Wales, Australia.
² Genomics and Inherited Disease Program, Garvan Institute of Medical Research, University of New South Wales (UNSW) Sydney, Sydney, New South Wales, Australia. Electronic address: j.ingles@garvan.org.au.

PMID: 38925721
DOI: 10.1016/j.jacep.2024.03.039

No abstract available

Keywords: Desminopathy; arrhythmogenic cardiomyopathy; genetic testing.

Publication types

Case Reports
Editorial

MeSH terms

Cardiomyopathies* / genetics
Cardiomyopathies* / physiopathology
Desmin / genetics
Desmin / metabolism
Electrocardiography
Humans
Muscular Dystrophies / genetics
Muscular Dystrophies / physiopathology
Phenotype*

Substances

Desmin

Supplementary concepts

Myopathy, Myofibrillar, Desmin-Related