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Distal myopathies are distal muscular dystrophies because they are genetic disorders with progressive loss of muscle tissue. The true distal dystrophies not only show a distal onset; they also remain more distal than proximal throughout the course of the disease. Currently almost 20 different entities of distal muscular dystrophies have been genetically determined, compared to just five entities delineated...
During the last 10 years several muscular dystrophies within the group of distal myopathies have been clarified as to the molecular genetic cause of the disease. Currently, the next steps are carried out to identify the molecular pathogenesis downstream of the gene defects. Some early ideas on what is going on in the muscle cells based on the defect proteins are emerging. However, in no single distal...
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