BAG3 myopathy is not always associated with cardiomyopathy

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Myofibrillar myopathies encompass a group of morphologically distinct and genetically heterogeneous myopathies, characterized by degeneration of the myofibrillar structures, often including Z-disc streaming, accumulation of degraded filamentous material and vacuoles in the muscle fibers. Different disease-causing mutations in genes coding for proteins related to the Z-disc have been described, including desmin (DES), αB-chrystallin, myotilin (MYOT), Z-band alternatively spliced PDZ containing protein (ZASP), filamin-C (FLNC), plectin and Bcl-2 associated athanogene 3 (BAG3).

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