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Elevated levels of complement components C5 and C9 and decreased antitrypsin activity in the serum of patients with X‐linked vacuolated myopathy
Author(s) -
Louboutin J.P.,
Villanova M.,
Ulrich G.,
De Clerck L.S.,
Fardeau M.,
Sagniez M.
Publication year - 1996
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/(sici)1097-4598(199609)19:9<1144::aid-mus10>3.0.co;2-v
Subject(s) - pathogenesis , myopathy , complement membrane attack complex , complement system , complement (music) , pathology , alternative complement pathway , medicine , immunology , biology , antibody , biochemistry , phenotype , complementation , gene
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. © 1996 John Wiley & Sons, Inc.