title: Elevated levels of complement components C5 and C9 and decreased antitrypsin activity in the serum of patients with X-linked vacuolated myopathy.
abstract: We have recently reported a French family presenting with an X-linked vacuolated myopathy. Here we show that levels of complement components C5 and C9 are elevated in the serum of these patients. Moreover, antitrypsin activity is decreased in the serum of the patients. Taken with the deposition of membrane attack complex encountered in muscle tissue, these results emphasize the role of complement in the pathogenesis of this rare muscular disorder.
authors: URA CNRS 1340-Hôpital GR Laënnec, Nantes, France.
authors: J P
authors: JP
authors: Louboutin
authors: M
authors: M
authors: Villanova
authors: G
authors: G
authors: Ulrich
authors: L S
authors: LS
authors: De Clerck
authors: M
authors: M
authors: Fardeau
authors: M
authors: M
authors: Sagniez
mesh_terms: D003182:Complement C5 / Q000032:analysis*; D003186:Complement C9 / Q000032:analysis*; D008040:Genetic Linkage; D006801:Humans; D009135:Muscular Diseases / Q000097:blood / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D014617:Vacuoles / Q000473:pathology; D014960:X Chromosome; D000515:alpha 1-Antitrypsin / Q000032:analysis*
chemical_list: D003182:Complement C5; D003186:Complement C9; D000515:alpha 1-Antitrypsin