Muscle inflammation, autoimmune Addison's disease and sarcoidosis in a patient with dysferlin deficiency

A Selva-O'Callaghan, M Labrador-Horrillo… - Neuromuscular …, 2006 - Elsevier
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.