title: Isolated loss of gamma-sarcoglycan: diagnostic implications in autosomal recessive limb-girdle muscular dystrophies.
abstract: Mutations in the sarcoglycan (SG) genes cause a subset of limb-girdle muscular dystrophies (LGMD). We report a Spanish patient with progressive LGMD exhibiting an almost isolated loss of gamma-SG and a homozygous Delta521-T mutation in the gamma-SG gene. These results suggest that isolated loss of gamma-SG might remain undetected using only the alpha-SG antibody in routine muscle biopsy studies. Both alpha- and gamma-SG antibodies should be used in the diagnostic detection of patients with LGMD.
authors.affiliation: Department of Neurology, Kliniken Bergmannsheil, University of Bochum, Bochum, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Vorgerd
authors.forename: M
authors.initials: M
authors.lastname: Gencik
authors.forename: J
authors.initials: J
authors.lastname: Mortier
authors.forename: J T
authors.initials: JT
authors.lastname: Epplen
authors.forename: J P
authors.initials: JP
authors.lastname: Malin
authors.forename: W
authors.initials: W
authors.lastname: Mortier
mesh_terms: D000328:Adult; D001706:Biopsy; D015153:Blotting, Western; D003598:Cytoskeletal Proteins / Q000032:analysis / Q000235:genetics* / Q000378:metabolism*; D005260:Female; D005455:Fluorescent Antibody Technique; D005808:Genes, Recessive; D006801:Humans; D008562:Membrane Glycoproteins / Q000032:analysis / Q000235:genetics* / Q000378:metabolism*; D018482:Muscle, Skeletal / Q000737:chemistry / Q000378:metabolism*; D009136:Muscular Dystrophies / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology; D017354:Point Mutation; D049031:Sarcoglycans
chemical_list: D003598:Cytoskeletal Proteins; D008562:Membrane Glycoproteins; D049031:Sarcoglycans