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The Clinical Spectrum of Sarcoglycanopathies Neurol 52:176-179, Angelini,C.,et al, 1999 See this aricle in Pubmed Article Abstract A group of 204 muscular dystrophy patients were screened f9or immunohistochemical and biochemical x-sarcoglycan defect and their DNA was analyzed for pathogenetic mutation in the four sarcoglycan genes. We identified 21 patients with x, B, or y-sarcoglycan gene mutations. Patients with a x-sarcoglycan gene mutations were clinically heterogenous and showed either a rapid progressive or a late-onset slow course. In the slowly evolving group, a residual x-sarcoglycan protein was present, and its level correlated with a milder disease course and significant later inability to stand up from the floor (p < 0.00005). Most patients with B- and y-sarcoglycan gene mutations presented a severe clinical course. There is a considerably different pattern of muscle involvement and disease course in these disorders, compared with dystrophinopathies.

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(click to filter results - removes previous filter) muscular dystrophy muscular dystrophy,classification muscular dystrophy,limb-girdle sarcoglycan sarcoglycanopathy

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