Muscle inflammation, autoimmune Addison's disease and sarcoidosis in a patient with dysferlin deficiency
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 wi...
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| Published in | Neuromuscular disorders : NMD Vol. 16; no. 3; pp. 208 - 209 |
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| Main Authors | , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
England
Elsevier B.V
01.03.2006
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| Subjects | |
| Online Access | Get full text |
| ISSN | 0960-8966 1873-2364 |
| DOI | 10.1016/j.nmd.2006.01.005 |
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| 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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| AbstractList | 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. 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.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. |
| Author | Herruzo, Angel Gallardo, Eduard Vilardell-Tarres, Miquel Selva-O'Callaghan, Albert Grau-Junyent, Josep M a Labrador-Horrillo, Moises |
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| Cites_doi | 10.1212/WNL.57.11.2136 10.1002/ana.10080 10.1093/hmg/ddh212 10.1016/S0140-6736(03)14368-1 10.1016/S0889-857X(02)00031-5 10.1016/S0165-5728(01)00377-0 |
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| Keywords | Autoimmunity Polymyositis Sarcoidosis Addison's disease Dysferlin |
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| References | Ho, Post, Donahue (bib6) 2004; 13 Hoffman, Rao, Pachman (bib4) 2002; 28 Dalakas, Hohlfeld (bib1) 2003; 362 Gallardo, Rojas-Garcia, de Luna, Pou, Brown, Illa (bib2) 2001; 57 Ho, Gallardo, McKenna-Yasek, De Luna, Illa, Brown (bib3) 2002; 51 Matsubara, Kitaguchi, Kawata, Miyamoto, Yagi, Hirai (bib5) 2001; 119 Gallardo (10.1016/j.nmd.2006.01.005_bib2) 2001; 57 Dalakas (10.1016/j.nmd.2006.01.005_bib1) 2003; 362 Ho (10.1016/j.nmd.2006.01.005_bib6) 2004; 13 Ho (10.1016/j.nmd.2006.01.005_bib3) 2002; 51 Matsubara (10.1016/j.nmd.2006.01.005_bib5) 2001; 119 Hoffman (10.1016/j.nmd.2006.01.005_bib4) 2002; 28 |
| References_xml | – volume: 362 start-page: 971 year: 2003 end-page: 982 ident: bib1 article-title: Polymyositis and dermatomyositis publication-title: Lancet – volume: 28 start-page: 743 year: 2002 end-page: 757 ident: bib4 article-title: Clarifying the boundaries between the inflammatory and dystrophic myopathies: insights from molecular diagnostics and microarrays publication-title: Rheum Dis Clin North Am – volume: 119 start-page: 223 year: 2001 end-page: 230 ident: bib5 article-title: Experimental allergic myositis in SJL/J mouse. Reappraisal of immune reaction based on changes after single immunization publication-title: J Neuroimmunol – volume: 51 start-page: 129 year: 2002 end-page: 133 ident: bib3 article-title: A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and Miyoshi myopathy publication-title: Ann Neurol – volume: 13 start-page: 1999 year: 2004 end-page: 2010 ident: bib6 article-title: Disruption of muscle membrane and phenotype divergence in two novel mouse models of dysferlin deficiency publication-title: Hum Mol Genet – volume: 57 start-page: 2136 year: 2001 end-page: 2138 ident: bib2 article-title: Inflammation in dysferlin myopathy: immunohistochemical characterization of 13 patients publication-title: Neurology – volume: 57 start-page: 2136 year: 2001 ident: 10.1016/j.nmd.2006.01.005_bib2 article-title: Inflammation in dysferlin myopathy: immunohistochemical characterization of 13 patients publication-title: Neurology doi: 10.1212/WNL.57.11.2136 – volume: 51 start-page: 129 year: 2002 ident: 10.1016/j.nmd.2006.01.005_bib3 article-title: A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and Miyoshi myopathy publication-title: Ann Neurol doi: 10.1002/ana.10080 – volume: 13 start-page: 1999 year: 2004 ident: 10.1016/j.nmd.2006.01.005_bib6 article-title: Disruption of muscle membrane and phenotype divergence in two novel mouse models of dysferlin deficiency publication-title: Hum Mol Genet doi: 10.1093/hmg/ddh212 – volume: 362 start-page: 971 year: 2003 ident: 10.1016/j.nmd.2006.01.005_bib1 article-title: Polymyositis and dermatomyositis publication-title: Lancet doi: 10.1016/S0140-6736(03)14368-1 – volume: 28 start-page: 743 year: 2002 ident: 10.1016/j.nmd.2006.01.005_bib4 article-title: Clarifying the boundaries between the inflammatory and dystrophic myopathies: insights from molecular diagnostics and microarrays publication-title: Rheum Dis Clin North Am doi: 10.1016/S0889-857X(02)00031-5 – volume: 119 start-page: 223 year: 2001 ident: 10.1016/j.nmd.2006.01.005_bib5 article-title: Experimental allergic myositis in SJL/J mouse. Reappraisal of immune reaction based on changes after single immunization publication-title: J Neuroimmunol doi: 10.1016/S0165-5728(01)00377-0 |
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| SubjectTerms | Addison Disease - etiology Addison's disease Adult Autoimmunity Dysferlin Humans Male Membrane Proteins - deficiency Muscle Proteins - deficiency Muscular Dystrophies, Limb-Girdle - complications Muscular Dystrophies, Limb-Girdle - diagnosis Myositis - etiology Polymyositis Sarcoidosis Sarcoidosis - etiology |
| Title | Muscle inflammation, autoimmune Addison's disease and sarcoidosis in a patient with dysferlin deficiency |
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