Immune-mediated rippling muscle disease.
The authors report a 44-year-old man with rippling muscle disease (RMD) who does not have a mutation in the caveolin-3 gene. Immunohistochemistry of the muscle biopsy revealed a marked reduction of caveolin-3 and a mosaic pattern of dysferlin immunostaining. Ultrastructural studies showed a loss of caveolae and alterations of the triad. Autoantibodies were directed against the sarcolemma, triad, and several unknown muscle proteins.
Schulte-Mattler
W J
WJ
Department of Neurology, University of Regensburg, Germany.
Kley
R A
RA
Rothenfusser-Korber
E
E
Böhm
S
S
Brüning
T
T
Hackemann
J
J
Steinbrecher
A
A
Düring
M V
MV
Voss
B
B
Vorgerd
M
M
D000328:Adult; D001323:Autoantibodies / Q000097:blood / Q000276:immunology*; D001324:Autoantigens / Q000276:immunology*; D001327:Autoimmune Diseases / Q000097:blood / Q000276:immunology*; D014408:Biomarkers, Tumor / Q000032:analysis; D021941:Caveolae / Q000276:immunology*; D051244:Caveolin 3; D022461:Caveolins / Q000032:analysis / Q000172:deficiency; D000073939:Dysferlin; D004576:Electromyography; D005207:Fasciculation / Q000097:blood / Q000209:etiology* / Q000276:immunology; D006801:Humans; D006984:Hypertrophy; D008297:Male; D008565:Membrane Proteins / Q000032:analysis / Q000172:deficiency; D009119:Muscle Contraction; D018485:Muscle Fibers, Skeletal / Q000473:pathology; D009124:Muscle Proteins / Q000032:analysis / Q000172:deficiency / Q000276:immunology*; D018482:Muscle, Skeletal / Q000737:chemistry / Q000473:pathology; D015282:Octreotide; D011312:Pressure; D011877:Radionuclide Imaging; D019275:Radiopharmaceuticals; D017481:Receptors, Somatostatin / Q000032:analysis; D012508:Sarcolemma / Q000276:immunology*; D013934:Thymectomy; D013945:Thymoma / Q000150:complications* / Q000000981:diagnostic imaging / Q000276:immunology / Q000601:surgery; D013953:Thymus Neoplasms / Q000150:complications* / Q000000981:diagnostic imaging / Q000276:immunology / Q000601:surgery; D014057:Tomography, X-Ray Computed
D001323:Autoantibodies; D001324:Autoantigens; D014408:Biomarkers, Tumor; D051244:Caveolin 3; D022461:Caveolins; C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins; D019275:Radiopharmaceuticals; D017481:Receptors, Somatostatin; D015282:Octreotide