Article
Sarcoglycanopathies: an update.
Neuromuscular disorders : NMD - 1 Oct 2021
Vainzof Mariz, Souza Lucas S, Gurgel-Giannetti Juliana, Zatz Mayana
Abstract excerpt
Sarcoglycanopathies are the most severe forms of autosomal recessive limb-girdle muscular dystrophies (LGMDs), constituting about 10-25% of LGMDs. The clinical phenotype is variable, but onset is usually in the first decade of life. Patients present muscle hypertrophy, elevated CK, variable muscle weaknesses, and progressive loss of ambulation. Four subtypes are known: LGMDR3, LGMDR4, LGMDR5 and LGMDR6, caused,...
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