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  • Title: Partial alpha-sarcoglycan deficiency with retention of the dystrophin-glycoprotein complex in a LGMD2D family.
    Author: Vainzof M, Moreira ES, Canovas M, Anderson LV, Pavanello RC, Passos-Bueno MR, Zatz M.
    Journal: Muscle Nerve; 2000 Jun; 23(6):984-8. PubMed ID: 10842281.
    Abstract:
    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 mutations close to the alpha-SG transmembrane domain might be less critical for complex integrity, and that weakness may occur despite its retention.
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