Currently, little is known about the genetic background of restrictive cardiomyopathy (RCM).
Herein, we screened an index patient with RCM in combination with atrial fibrillation using a …

Mutations in the human desmin gene (DES) may cause both autosomal dominant and
recessive cardiomyopathies leading to heart failure, arrhythmias and atrio-ventricular blocks …

Pathogenic variants in the DES gene clinically manifest as progressive skeletal muscle
weakness, cardiomyopathy with associated severe arrhythmias, and respiratory …

Familial primary desminopathies are usually autosomal dominantly inherited and present at
the age of 20 to 40 years with progressive muscle weakness and atrophy, cardiomyopathy …

Desmin is a muscle-specific intermediate filament protein, which plays a significant role in
providing structural integrity of cardiomyocytes by connecting different cell organelles and …

Recessive desminopathies are rare and often present as severe early-onset myopathy. Here
we report a milder phenotype in three unrelated patients from southern India (2 M, 1F) aged …

Electron microscopy (EM) has a substantial role in the diagnosis of skeletal muscle
disorders. The ultrastructural changes can be observed in muscle fibers and other …