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The main lines of research into muscular diseases or myopathies are focused on:
Better classifying some acquired myopathies (in particular, myositis), based not only on clinical data but also on MRI data and various autoantibodies in serum. This should make it possible to better diagnose patients as well as more precisely tailor the available treatment.
Developing animal (mouse) models for testing new drugs, for example in cases of McArdle disease, Duchenne dystrophy and antisynthetase syndrome.
Developing cell cultures using fibroblasts (obtained through a minimal skin biopsy), to reproduce certain diseases in order to discover therapeutic targets for new drugs. Unlike the previous section, this is an ex vivo model.
Gene therapy. This is aimed at modifying the diseased or altered genes to permanently cure serious diseases like muscular dystrophy. Although this has not yet been achieved for muscular dystrophy, a great deal of progress has been made in recent years, in similar degenerative diseases, such as infantile spinal atrophy.
Sergio Prieto GonzálezMedical internistDepartment of Internal Medicine
Published: 18 November 2020
Updated: 18 November 2020
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