Expression of caveolar components in primary desminopathy

A mutation in desmin makes skeletal muscle less vulnerable to acute muscle damage after eccentric loading in rats

“… 28 , 29 , 30 Increase in number of central nuclei has been reported for various desmin mutations including the R349P knock‐in. 31 , 32 , 33 In line with this, we interpret the increased central nuclei in our model as a sign of chronic remodeling as a result of an inability to maintain structural integrity in the absence of functional desmin. Over time, this would result in a compensatory increase in other force transfer proteins.…”

Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders

“…Deposits of caveolin-3 have been observed in muscle cytoplasm of patients with primary desminopathy ( 150 ). Caveolin-3 is normally present in sarcolemmal lipid rafts; however, its presence in the muscle cytoplasm of these patients may be a result of reduced caveolar traffi cking ( 151 ).…”

Nebulin binding impedes mutant desmin filament assembly

“…Of interest, desminopathy is also linked to vocal cord palsy and pharyngeal distal myopathy (Albertyn et al ., 2010). Recognized histological phenotypes such as cytosolic protein aggregates, myofibril dissolution, rubbed-out fibers, and rimmed vacuoles are characteristically found in biopsies from human muscle tissues (Shinde et al ., 2008; Claeys et al ., 2009; McLendon and Robbins, 2011). …”