Associated Papers
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.
Donkervoort S et al.
Annals of Clinical and Translational Neurology, 2024
Structural and signaling proteins in the Z-disk and their role in cardiomyopathies.
Noureddine M et al.
Frontiers in Physiology, 2023
ACTN2 variant associated with a cardiac phenotype suggestive of left-dominant arrhythmogenic cardiomyopathy.
Good JM et al.
Heartrhythm Case Reports, 2020
Genetic Animal Models for Arrhythmogenic Cardiomyopathy.
Gerull B et al.
Frontiers in Physiology, 2020
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