Mitochondria are double‐membrane‐bound organelles that are present in all nucleated
eukaryotic cells and are responsible for the production of cellular energy in the form of ATP …

Mitochondria play an important role in maintaining cardiac homeostasis by supplying the
major energy required for cardiac excitation–contraction coupling as well as controlling the …

Skeletal muscle is a key tissue in human aging, which affects different muscle fiber types
unequally. We developed a highly sensitive single muscle fiber proteomics workflow to study …

Background Beyond the observed alterations in cellular structure and mitochondria, the
mechanisms linking rare genetic mutations to the development of heart failure in patients …

Neuromuscular diseases (NMDs) are a heterogeneous group of acquired or inherited rare
disorders caused by injury or dysfunction of the anterior horn cells of the spinal cord (lower …

Background: Myotonic dystrophy type 1 (DM1) is a dominant autosomal neuromuscular
disorder caused by the inheritance of a CTG triplet repeat expansion in the Dystrophia …

Myofibrillary myopathies (MFM) are hereditary myopathies histologically characterized by
degeneration of myofibrils and aggregation of proteins in striated muscle. Cardiomyopathy is …

Background: The pleomorphic clinical presentation makes the diagnosis of desminopathy
difficult. We aimed to describe the prevalence, phenotypic expression, and mitochondrial …

Mitochondrial dysfunction is considered the major contributor to skeletal muscle wasting in
different conditions. Genetically determined neuromuscular disorders occur as a result of …

Desmin, being a major intermediate filament of muscle cells, contributes to stabilization and
positioning of mitochondria. Desmin mutations have been reported in conjunction with …