Inflammation in dysferlin myopathy: immunohistochemical characterization of 13 patients.
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.
Gallardo
E
E
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.
Rojas-García
R
R
de Luna
N
N
Pou
A
A
Brown
R H
RH
Illa
I
I
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
C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins