Abstract
Limb-girdle muscular dystrophies (LGMD) are clinically and genetically heterogeneous conditions presenting with a wide clinical spectrum leading to progressive proximal weakness caused by loss of muscle fibers. LGMD are presenting with various phenotypes, high CK, leading to muscle degenerative features at muscle MRI. MiR-206 is a member of myomiRs, a group of miRNAs with important functions in skeletal muscle. The aim is to determine the value of miR-206 in detecting muscle disease evolution in LGMD. We described clinical features, disease history, and progression of eleven patients affected by LGMD subdivided into Transportinopathy, Sarcoglycanopathies, and Calpainopathy subtypes.
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