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Myofibrillar myopathies (MFM) are caused by mutations in at least 6 Z-disc associated proteins, including ZASP, myotilin, desmin, BAG3, αβ-crystallin, and filamin C. MFM are characterized by early and prominent disruption of the Z-disc with focal dissolution of myofibrils and ectopic accumulation of myofibrillar proteins. Similar morphological changes in skeletal muscle in MFM suggest a shared cellular...
Myofibrillar myopathies (MFM) are characterized by early and prominent disruption of the Z-disc with focal dissolution of myofibrils and ectopic accumulation of myofibrillar proteins. The molecular mechanisms underlying the Z-disc disruption in MFM are not yet delineated. The Z-disc is a key element for structural integrity of the sarcomere, the basic contractile unit in skeletal muscle. The core...
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