title: Partial alpha-sarcoglycan deficiency with retention of the dystrophin-glycoprotein complex in a LGMD2D family.
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.
authors.affiliation: Centro de Estudos do Genoma Humano, Instituto de Biociências, Universidade de São Paulo, R. do Matão, 277, sala 220, São Paulo, SP-CEP 05508-900, Brazil. mvainzof@usp.br
authors.forename: M
authors.initials: M
authors.lastname: Vainzof
authors.forename: E S
authors.initials: ES
authors.lastname: Moreira
authors.forename: M
authors.initials: M
authors.lastname: Canovas
authors.forename: L V
authors.initials: LV
authors.lastname: Anderson
authors.forename: R C
authors.initials: RC
authors.lastname: Pavanello
authors.forename: M R
authors.initials: MR
authors.lastname: Passos-Bueno
authors.forename: M
authors.initials: M
authors.lastname: Zatz
mesh_terms: D000328:Adult; D001706:Biopsy; D003598:Cytoskeletal Proteins / Q000235:genetics*; D016189:Dystrophin / Q000032:analysis / Q000235:genetics*; D005192:Family Health; D006023:Glycoproteins / Q000032:analysis / Q000235:genetics*; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D018482:Muscle, Skeletal / Q000737:chemistry / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D009679:Nuclear Family; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D049031:Sarcoglycans
chemical_list: D003598:Cytoskeletal Proteins; D016189:Dystrophin; D006023:Glycoproteins; D008562:Membrane Glycoproteins; D049031:Sarcoglycans