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Cardiomyocyte-specific desmin rescue of desmin null cardiomyopathy excludes vascular involvement
Journal of Molecular and Cellular Cardiology, 2004Mice deficient in desmin, the muscle-specific member of the intermediate filament gene family, display defects in all muscle types and particularly in the myocardium. Desmin null hearts develop cardiomyocyte hypertrophy and dilated cardiomyopathy (DCM) characterized by extensive myocyte cell death, calcific fibrosis and multiple ultrastructural defects.
Noah, Weisleder +4 more
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Desmin‐related neuromuscular disorders
Muscle & Nerve, 1995AbstractDesmin, the intermediate filament protein of skeletal muscle fibers, cardiac myocytes, and certain smooth muscle cells, is a member of the cytoskeleton linking Z‐bands with the plasmalemma and the nucleus. The pathology of desmin in human neuromuscular disorders is always marked by increased amounts, diffusely or focally.
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New roles for desmin in the maintenance of muscle homeostasis
FEBS Journal, 2022Giulio Agnetti +2 more
exaly
A novel mutation in desmin gene causing desmin myopathy (3020)
Neurology, 2021Swathi Beladakere Ramaswamy +3 more
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Prevalence of Desmin Mutations in Dilated Cardiomyopathy
Circulation, 2007Matthew R G Taylor +2 more
exaly