title: Inflammation in dysferlin myopathy: immunohistochemical characterization of 13 patients.
abstract: Inflammation was detected in 9 of 13 patients with different phenotypes of dysferlin myopathy. Endomysial or perivascular infiltrates consisted of 11.1% +/- 6.6% CD8(+) cells, 40.6% +/- 22.8% CD4(+) cells, 36.7% +/- 23.7% macrophages, and no B cells. Major histocompatibility complex class I was not upregulated in normal muscle fibers. In young patients with sporadic proximal weakness, very high creatine kinase levels, necrotic fibers and inflammation in the muscle biopsy, a diagnosis of dysferlin myopathy should be considered.
authors.affiliation: Department of Neurology, Neuromuscular Unit and Laboratory of Experimental Neurology, Hospital de la Sta Creu i St Pau and Institut de Recerca HSCSP, Universitat Autònoma de Barcelona, Spain.
authors.forename: E
authors.initials: E
authors.lastname: Gallardo
authors.forename: R
authors.initials: R
authors.lastname: Rojas-García
authors.forename: N
authors.initials: N
authors.lastname: de Luna
authors.forename: A
authors.initials: A
authors.lastname: Pou
authors.forename: R H
authors.initials: RH
authors.lastname: Brown
authors.forename: I
authors.initials: I
authors.lastname: Illa
mesh_terms: D000293:Adolescent; D000328:Adult; D001706:Biopsy; D015496:CD4-Positive T-Lymphocytes / Q000473:pathology*; D018414:CD8-Positive T-Lymphocytes / Q000473:pathology*; D002889:Chromosomes, Human, Pair 2; D000073939:Dysferlin; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins; D009124:Muscle Proteins / Q000235:genetics*; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology; D009220:Myositis / Q000235:genetics* / Q000473:pathology
chemical_list: C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins