Article
Partial alpha-sarcoglycan deficiency with retention of the dystrophin-glycoprotein complex in a LGMD2D family.
Muscle & nerve - 1 Jun 2000
Vainzof M, Moreira E S, Canovas M, Anderson L V, Pavanello R C, Passos-Bueno M R, Zatz M
Abstract excerpt
In patients with sarcoglycan (SG) deficiency, a primary defect in any one of the four SG proteins usually leads to reduced expression of the whole SG complex. We report a limb-girdle muscular dystrophy type 2D family (LGMD2D), with variable phenotype, where a mutation in the alpha-SG gene resulted in the partial deficiency of alpha-SG alone. The normal expression of the other three SG proteins suggests that...
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