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  • Title: Muscle inflammation, autoimmune Addison's disease and sarcoidosis in a patient with dysferlin deficiency.
    Author: Selva-O'Callaghan A, Labrador-Horrillo M, Gallardo E, Herruzo A, Grau-Junyent JM, Vilardell-Tarres M.
    Journal: Neuromuscul Disord; 2006 Mar; 16(3):208-9. PubMed ID: 16483775.
    Abstract:
    Idiopathic inflammatory myopathies are a group of acquired, heterogeneous, systemic diseases commonly regarded as autoimmune disorders. Differential diagnosis includes muscular dystrophies, especially the dysferlin-deficiency myopathy. We report a case of a patient diagnosed with polymyositis and with associated autoimmune diseases that finally turned out to be a dysferlin deficiency (limb girdle muscular dystrophy type 2B). A possible link between dysferlin deficiency an autoimmunity is discussed.
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