title: Assessment of the 50-kDa dystrophin-associated glycoprotein in Brazilian patients with severe childhood autosomal recessive muscular dystrophy.
abstract: Recently, we have demonstrated the specific deficiency of the 50-kDa dystrophin-associated glycoprotein (50DAG) in severe childhood autosomal recessive muscular dystrophy with Duchenne-like phenotype (SCARMD or AR-DLMD), a disease first reported in Tunisia and now presumed to be prevalent in North Africa and the Middle East. Here we demonstrate the deficiency of the 50DAG in one caucasoid and 5 negroid Brazilian patients with severe muscular dystrophy, which confirms that AR-DLMD with the 50DAG deficiency is not confined to the Arab populations. Without the analysis of both dystrophin and 50DAG, isolated male patients with this condition could be undiagnosed or misdiagnosed as having Duchenne or severe Becker muscular dystrophy. We also report, for the first time, the normal expression of the 50DAG and other dystrophin-associated proteins in one negroid and 2 caucasoid Brazilian patients with a phenotype indistinguishable from that of AR-DLMD with 50DAG deficiency. This is consistent with the genetic heterogeneity for the phenotype of AR-DLMD.
authors.affiliation: Departamento de Biologia, Universidade de São Paulo, Brazil.
authors.forename: M
authors.initials: M
authors.lastname: Zatz
authors.forename: K
authors.initials: K
authors.lastname: Matsumura
authors.forename: M
authors.initials: M
authors.lastname: Vainzof
authors.forename: M R
authors.initials: MR
authors.lastname: Passos-Bueno
authors.forename: R C
authors.initials: RC
authors.lastname: Pavanello
authors.forename: S K
authors.initials: SK
authors.lastname: Marie
authors.forename: K P
authors.initials: KP
authors.lastname: Campbell
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D001706:Biopsy; D001938:Brazil; D002648:Child; D003598:Cytoskeletal Proteins / Q000032:analysis* / Q000172:deficiency*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008562:Membrane Glycoproteins / Q000032:analysis* / Q000172:deficiency*; D009132:Muscles / Q000473:pathology*; D009136:Muscular Dystrophies / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D010641:Phenotype; D049031:Sarcoglycans
chemical_list: D003598:Cytoskeletal Proteins; D008562:Membrane Glycoproteins; D049031:Sarcoglycans