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DIAGNOSTICS, ASSAY METHODS AND AMELIORATION OF MUSCULAR DYSTROPHY SYMPTOMS
DIAGNOSTICS, ASSAY METHODS AND AMELIORATION OF MUSCULAR DYSTROPHY SYMPTOMS
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机译:肌营养不良症状的诊断,评估方法和缓解
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摘要
The present disclosure provides compositions and sequences for the diagnosis, genetic therapy of certain muscular dystrophies, especially muscular dystrophy resulting from a deficiency in dystrophin protein or a combined deficiency in dystrophin and utrophin, and methods and compositions for the identification of compounds which increase expression of the alpha 7 integrin. Expression of the integrin alpha BX2 polypeptide in muscle cells results in better physical condition in a patient or an animal lacking normal levels of dystrophin or dystrophin and utrophin. The present disclosure further provides immunological and nucleic acid based methods for the diagnosis of scapuloperoneal muscular dystrophy, where there is a reduction in or absence of alpha 7A integrin expression in muscle tissue samples and normal levels of laminin-2/4 in those same samples. The present disclosure further provides methods for identifying compositions which increase the expression of alpha 7 integrin protein in muscle cells of dystrophy patients.
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