title: Dystrophin-glycoproteins associated in congenital muscular dystrophy: immunohistochemical analysis of 59 Brazilian cases.
abstract: The congenital muscular dystrophies (CMD) are heterogeneous muscular diseases with early and dystrophic pattern on muscle biopsy. Many different subtypes have been genetically identified and most phenotypes not yet identified belong to the merosin-positive (MP) CMD subgroup.
  
  
  OBJECTIVE
  To analyze the immunohistochemical expression of the main proteins of the dystrophin-glycoproteins associated complex in muscle biopsy of patients with different CMD phenotypes, for investigating a possible correlation with clinical and histopathological data.
  
  
  METHODS
  Fifty-nine patients with CMD had clinical, histopathological and immunohistochemical data evaluated: 32 had MP-CMD, 23 CMD with merosin deficiency (MD-CMD), one Ullrich phenotype and three Walker-Warburg disease.
  
  
  RESULTS
  Dystrophin and dysferlin were normal in all; among the patients with MD-CMD, merosin deficiency was partial in nine who showed the same clinical severity as those with total deficiency; the reduced expression of alpha-sarcoglycan (SG) and alpha-dystroglycan (DG) showed statistically significant correlation with severe MD-CMD phenotype.
  
  
  CONCLUSIONS
  There is a greater relationship between merosin and the former proteins; among MP-CMD patients, no remarkable immunohistochemical/phenotypical correlations were found, although the reduced expression of beta-DG had showed statistically significant correlation with severe phenotype and marked fibrosis on muscular biopsy.
authors.affiliation: Departamento de Neurologia, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brasil.
authors.forename: Lucio Gobbo
authors.initials: LG
authors.lastname: Ferreira
authors.forename: Suely Kazue
authors.initials: SK
authors.lastname: Marie
authors.forename: Enna Cristina
authors.initials: EC
authors.lastname: Liu
authors.forename: Maria Bernadete Dutra
authors.initials: MB
authors.lastname: Resende
authors.forename: Mary Souza
authors.initials: MS
authors.lastname: Carvalho
authors.forename: Milberto
authors.initials: M
authors.lastname: Scaff
authors.forename: Umbertina Conti
authors.initials: UC
authors.lastname: Reed
mesh_terms: D000293:Adolescent; D001938:Brazil; D016009:Chi-Square Distribution; D002648:Child; D002675:Child, Preschool; D049028:Dystrophin-Associated Protein Complex / Q000235:genetics / Q000378:metabolism*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007797:Laminin / Q000172:deficiency*; D008297:Male; D009136:Muscular Dystrophies / Q000151:congenital / Q000378:metabolism*; D010641:Phenotype; D049031:Sarcoglycans / Q000378:metabolism; D012720:Severity of Illness Index
chemical_list: D049028:Dystrophin-Associated Protein Complex; D007797:Laminin; D049031:Sarcoglycans