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

2006; Elsevier BV; Volume: 16; Issue: 3 Linguagem: Inglês

10.1016/j.nmd.2006.01.005

1873-2364

Albert Selva-O’Callaghan, Moisés Labrador‐Horrillo, Eduard Gallardo, Angel Herruzo, Josep M. Grau‐Junyent, Miquel Vilardell‐Tarrés,

Neurogenetic and Muscular Disorders Research

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.