Abstract:identified in the gene encoding desmin leading to rare diseases belonging to MyoFibrillar Myopathy group (MFM). These pathologies are mainly characterized by aggregates formation in muscle tissue, associated with misorganizations of the contractile apparatus. Moreover patients progressively develop muscle weakness. Currently, pathophysiology and molecular defects of MFMs remain largely unknown, and no treatments are available. In this context, the aim of our study is to clarify whether desmin mutations implica… Show more
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