ArticleClinical rheumatology2010
Dysferlin deficiency treated like refractory polymyositis.
Article in Clinical rheumatology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 19 citations in OpenAlex.
- The Mythology of Polymyositis.Rheumatic diseases clinics of North America · 2025Review
- Dysferlinopathy misdiagnosed with juvenile polymyositis in the pre-symptomatic stage of hyperCKemia: a case report and literature review.BMC medical genomics · 2022Review
- Clinical, Neurophysiological, Radiological, Pathological, and Genetic Features of Dysferlinopathy in Saudi Arabia.Frontiers in neuroscience · 2022Article
- Diagnostic muscle biopsies in the era of genetics: the added value of myopathology in a selection of limb-girdle muscular dystrophy patients.Acta neurologica Belgica · 2021Article
- A Patient With Late-onset Limb-girdle Muscular Dystrophy Type 2B Mimicking Dermatomyositis: A Case Report and Review.Journal of rheumatic diseases · 2021Article
- The Classification, Natural History and Treatment of the Limb Girdle Muscular Dystrophies.Journal of neuromuscular diseases · 2015Article
- Polymyositis, a very uncommon isolated disease: clinical and histological re-evaluation after long-term follow-up.Rheumatology international · 2015Article
- Limb-girdle muscular dystrophies: where next after six decades from the first proposal (Review).Molecular medicine reports · 2014Review
- The effects of MyD88 deficiency on disease phenotype in dysferlin-deficient A/J mice: role of endogenous TLR ligands.The Journal of pathology · 2013Article
- Diagnosis by protein analysis of dysferlinopathy in two patients mistaken as polymyositis.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2011Article
- Dysferlinopathy course and sportive activity: clues for possible treatment.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2011Article
- Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet.Journal of neuromuscular diseasesReview
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
When an adult suffers from muscular symptoms, the diagnosis of polymyositis is often accepted if muscular biopsy reveals necrosis, fibrosis and cellular infiltrate with high expression of major histocompatibility complex class I. Late-onset limb-girdle muscular dystrophy (LGMD) can also be considered. We report the case of a young woman who suffers from dysferlin deficiency, and who was mistakenly treated for refractory polymyositis for 5 years. In LGMD, standard pathological analysis can indeed wrongly give a diagnosis of polymyositis. Immunofixation must be performed to avoid this mistake.
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Registered trials
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