Transcription of Actualización en distrofias musculares - cardiacos.net
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Actualización en distrofias musculares - cardiacos.net
REVISI N. Actualizaci n en distrofias musculares R. Erazo-Torricelli UPDATES IN muscular DYSTROPHIES. Summary. Introduction. Advances in molecular genetics on lasts 15 years had modified profoundly our knowledge about muscular dystrophies. The pathogenia, caused by defectives proteins which disrupt dystrophin-associated-protein complex in most of the dystrophies, has generate a new classification based in protein and genomic defects. Development. In this review, clinical, genetic, diagnostic and therapeutic aspects of the main muscular dystrophies are described. Limb girdle muscular dystrophies with Duchenne-like phenotipe (sarcoglycanopathies), are identified by immunohistochemistry, as X-linked Emery- Dreifuss muscular distrophy (emerin deficit), and classical congenital muscular dystrophy (merosine depletion). The others limb girdle muscular dystrophies, an heterogeneous phenotypical group, are detected by Western blot (mainly calpaino- pathies), or inmunohistochemistry in muscle (caveolinopath es) and blood (dysferlinopathies).
DISTROFIAS MUSCULARES REV NEUROL 2004; 39 (9): 860-871 861 bilidad muscular, su asociación con cardiopatías y/o la afecta-ción …
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