Article
The clinical spectrum of sarcoglycanopathies.
Neurology - 1 Jan 1999
Angelini C, Fanin M, Freda M P, Duggan D J, Siciliano G, Hoffman E P
Abstract excerpt
A group of 204 muscular dystrophy patients were screened for immunohistochemical and biochemical alpha-sarcoglycan defect and their DNA was analyzed for pathogenetic mutation in the four sarcoglycan genes. We identified 21 patients with alpha-, beta-, or gamma-sarcoglycan gene mutations. Patients with alpha-sarcoglycan gene mutations were clinically heterogeneous and showed either a rapid progressive or a...
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