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Polymyositis with mitochondrial pathology or atypical form of sporadic inclusion body myositis: case series and review of the literature

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Abstract

Polymyositis with mitochondrial pathology (PM-Mito) is a rare form of idiopathic inflammatory myopathy with no definite diagnostic criteria and similarities to both PM and sporadic inclusion body myositis (s-IBM). The aim of this study is to address the dilemma of whether PM-Mito is a subtype of inflammatory myopathy or represents a disease falling into the spectrum of s-IBM. Herein, we report four female patients diagnosed with PM-Mito, highlighting their rather atypical clinical and histopathological characteristics that seem to indicate a diagnosis away from s-IBM. Muscle weakness was rather proximal and symmetrical and lacked the selective pattern observed in s-IBM. Patients had large-scale deletions in mtDNA, reflecting the mitochondrial component in the pathology of the disease. Conclusively, our study adds to the limited data in the literature on whether PM-Mito is a distinct form of myositis or represents a prodromal stage of s-IBM. Although the latter seems to be supported by a substantial body of evidence, there are, however, important differences, such as the different patterns of muscle weakness, and the good response to treatment observed in some patients. Larger-scale studies are certainly needed to clarify pathogenesis and clinical characteristics of PM-Mito patients, especially in therapeutic and prognostic terms.

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Funding

This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.

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Authors and Affiliations

  1. 1st Department of Neurology, Medical School, Eginition Hospital, National and Kapodistrian University of Athens, 74, Vas. Sophias Ave, 11528, Athens, Greece

    George K. Papadimas, Sophia Xirou, Margarita Chrysanthou, Evangelia Kararizou & Constantinos Papadopoulos

  2. Department of Medical Genetics, Medical School, St. Sofia’s Children’s Hospital, National and Kapodistrian University of Athens, Athens, Greece

    Charalampos Kokkinis

Authors
  1. George K. Papadimas
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  2. Charalampos Kokkinis
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  3. Sophia Xirou
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  4. Margarita Chrysanthou
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  5. Evangelia Kararizou
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  6. Constantinos Papadopoulos
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Contributions

GKP: study concept and design, writing, revising the manuscript, accepts responsibility for all research, giving final approval. CK: study concept, mtDNA analysis and interpretation of data, revising the manuscript, giving final approval. SX: acquisition, analysis and interpretation of data. MC: analysis and interpretation of data. EK: study design, drafting, revising the manuscript, giving final approval. CP: study concept, drafting, revising the manuscript, giving final approval.

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Correspondence to George K. Papadimas.

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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.

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Supplementary Figure 1: Flow diagram describing patients’ selection (TIF 30 kb)

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Papadimas, G.K., Kokkinis, C., Xirou, S. et al. Polymyositis with mitochondrial pathology or atypical form of sporadic inclusion body myositis: case series and review of the literature. Rheumatol Int 39, 1459–1466 (2019). https://doi.org/10.1007/s00296-019-04314-8

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