Abstract
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.
MeSH terms
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Adult
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Autoantibodies / blood
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Autoantibodies / immunology*
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Autoantigens / immunology*
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Autoimmune Diseases / blood
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Autoimmune Diseases / immunology*
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Biomarkers, Tumor / analysis
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Caveolae / immunology*
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Caveolin 3
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Caveolins / analysis
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Caveolins / deficiency
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Dysferlin
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Electromyography
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Fasciculation / blood
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Fasciculation / etiology*
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Fasciculation / immunology
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Humans
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Hypertrophy
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Male
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Membrane Proteins / analysis
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Membrane Proteins / deficiency
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Muscle Contraction
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Muscle Fibers, Skeletal / pathology
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Muscle Proteins / analysis
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Muscle Proteins / deficiency
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Muscle Proteins / immunology*
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Muscle, Skeletal / chemistry
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Muscle, Skeletal / pathology
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Octreotide
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Pressure
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Radionuclide Imaging
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Radiopharmaceuticals
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Receptors, Somatostatin / analysis
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Sarcolemma / immunology*
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Thymectomy
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Thymoma / complications*
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Thymoma / diagnostic imaging
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Thymoma / immunology
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Thymoma / surgery
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Thymus Neoplasms / complications*
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Thymus Neoplasms / diagnostic imaging
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Thymus Neoplasms / immunology
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Thymus Neoplasms / surgery
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Tomography, X-Ray Computed
Substances
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Autoantibodies
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Autoantigens
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Biomarkers, Tumor
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Caveolin 3
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Caveolins
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DYSF protein, human
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Dysferlin
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Membrane Proteins
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Muscle Proteins
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Radiopharmaceuticals
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Receptors, Somatostatin
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Octreotide