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Updated: Aug 11, 2026

Immunolabelling Myofiber Degeneration in Muscle Biopsies
Published on: December 5, 2019
Muscle inflammation, autoimmune Addison's disease and sarcoidosis in a patient with dysferlin deficiency
Albert Selva-O'Callaghan1, Moises Labrador-Horrillo, Eduard Gallardo
1Internal Medicine Department Hospital General Vall, d'Hebron, Universitat Autonoma, Barcelona, Spain. aselva@vhebron.net
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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