Article
Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report.
Neuromuscular disorders : NMD - 1 Nov 2018
Fecarotta S, Gragnaniello V, Della Casa R, Romano A, Raiano E, Torella A, Savarese M, Nigro V, Strisciuglio P, Andria G, Parenti G
Abstract excerpt
Alpha-dystroglycanopathies are a group of progressive and untreatable neuromuscular disorders, due to aberrant alpha-dystroglycan glycosylation. We describe the effects of a short-term cycle of corticosteroid therapy in a 9-year-old boy, affected by an alpha-dystroglycanopathy due to GMPPB gene mutations. The patient was affected by a congenital progressive muscular dystrophy since the first month of life,...
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