نتایج جستجو برای: desmin
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The term myofibrillar myopathy (MFM) was proposed in 1996 as a non-committal term for a pathological pattern of myofibrillar dissolution associated with accumulation of myofibrillar degradation products and ectopic expression of multiple proteins that include desmin, alphaB-crystallin (alphaBC), dystrophin and congophilic amyloid material. Subsequent studies revealed dominant mutations in desmi...
Three cases of soft-tissue sarcomas with the characteristic histologic features of alveolar rhabdomyosarcoma, but lacking cytoplasmic cross-striations, were studied ultrastructurally and immunohistochemically to confirm the diagnosis and evaluate the histogenesis. The results showed that it was not possible to judge the skeletal muscle derivation of the cells at the ultrastructural level. Howev...
Muscle fiber deterioration resulting in progressive skeletal muscle weakness, heart failure, and respiratory distress occurs in more than 20 inherited myopathies. As discussed in this Review, one of the newly identified myopathies is desminopathy, a disease caused by dysfunctional mutations in desmin, a type III intermediate filament protein, or alphaB-crystallin, a chaperone for desmin. The ra...
Myofibrillar myopathies (MFMs) are a group of sporadic and hereditary skeletal muscle diseases, which lead to severe physical disability and premature death. Most MFMs are caused by mutations in genes encoding desmin, plectin, VCP, filamin C, BAG3, FHL-1, αB-crystallin, DNAJB6, myotilin, and ZASP. Biomechanical studies on primary human myoblasts carrying desmin and plectin mutations showed incr...
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