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From the Neuromuscular Center (Dr. Angelini, and M. Fanin and M.P. Freda), Department of Neurology, University of Padua, Italy; the Department of Molecular Genetics and Biochemistry (Drs. Duggan and Hoffman), University of Pittsburgh, PA; and the Department of Neurosciences (Dr. Siciliano), University of Pisa, Italy.
Address correspondence and reprint requests to Dr. Corrado Angelini, Neurology Department, University of Padua, via Giustiniani 5, 35128 Padua, Italy.
A group of 204 muscular dystrophy patients were screened for immunohistochemical and biochemical 
-sarcoglycan defect and their DNA was analyzed for pathogenetic mutation in the four sarcoglycan genes. We identified 21 patients with -, ß-, or 
-sarcoglycan gene mutations. Patients with -sarcoglycan gene mutations were clinically heterogeneous and showed either a rapid progressive or a late-onset slow course. In the slowly evolving group, a residual -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 ß- and -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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