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Short Communication - Allied Journal of Medical Research (2022) Volume 6, Issue 12
Mechanisms and pathophysiology of desminopathies.
The extra-sarcomeric cytoskeleton of muscle cells is crucially dependent on the intermediate filament protein desmin. The location of cell organelles, signalling events and the structural and functional alignment and anchoring of myofibrils are all influenced by this three-dimensional filamentous structure. Autosomal dominant, autosomal recessive, and sporadic myopathies and/ or cardiomyopathies with significant phenotypic diversity are caused by mutations in the human desmin gene on chromosome. The condition might start in childhood or as an adult. There is currently no specific treatment for this extremely debilitating condition, and the clinical course is progressive. Desmin-positive protein aggregates and deteriorating myofibrillar apparatus are the hallmarks of muscle disease.
Author(s): Rolf Clemen*