Distinction between Duchenne and other muscular dystrophies by ribosomal protein synthesis.

Muscle ribosomal protein synthesis in normal pregnancy: implication for carrier detection in Duchenne muscular dystrophy.

Oxidative stress and pathology in muscular dystrophies: focus on protein thiol oxidation and dysferlinopathies.

The muscular dystrophies comprise more than 30 clinical disorders that are characterized by progressive skeletal muscle wasting and degeneration. Although the genetic basis for many of these disorders has been identified, the exact mechanism for pathogenesis generally remains unknown. It is considered that disturbed levels of reactive oxygen species (ROS) contribute to the pathology of many mus...

Cross‐sectional serum metabolomic study of multiple forms of muscular dystrophy

Muscular dystrophies are characterized by a progressive loss of muscle tissue and/or muscle function. While metabolic alterations have been described in patients'-derived muscle biopsies, non-invasive readouts able to describe these alterations are needed in order to objectively monitor muscle condition and response to treatment targeting metabolic abnormalities. We used a metabolomic approach ...

Three Muscular Dystrophies: Review Loss of Cytoskeleton-Extracellular Matrix Linkage

Muscular dystrophies are a group of diseases that primarily affect skeletal muscle and are characterized by progressive muscle wasting and weakness. Although these diseases have been clinically recognized for a number of years, genetic defects in a number of muscular dystrophies have only recently been identified. One of the most important advances in understanding the molecular genetics of neu...

Epidemiology of muscular dystrophies in the Mediterranean area

The Mediterranean countries are distinguished with their peculiar genetic pool and diversities. Recessive diseases often present with their own founder mutations. In some instances this is shared with neighboring populations. Dominant disorders in the area are increasingly recognized as health care providing systems and technology improve. Among muscular dystrophies Duchenne and Becker types co...