ArticleActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology2011
Diagnosis by protein analysis of dysferlinopathy in two patients mistaken as polymyositis.
Article in Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
9 citing papers in PubMed.
- Dysferlinopathies: phenotypic study of a Moroccan series of 28 cases.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2026Article
- Miyoshi myopathy associated with spine rigidity and multiple contractures: a case report.BMC musculoskeletal disorders · 2024Article
- 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
- Genetic variability in Iranian limb-girdle muscular dystrophy type 2B patients: An evidence of a founder effect.Molecular genetics & genomic medicine · 2019Article
- Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis?The American journal of case reports · 2017Article
- Enhanced Muscular Dystrophy from Loss of Dysferlin Is Accompanied by Impaired Annexin A6 Translocation after Sarcolemmal Disruption.The American journal of pathology · 2016Article
- The effects of MyD88 deficiency on disease phenotype in dysferlin-deficient A/J mice: role of endogenous TLR ligands.The Journal of pathology · 2013Article
Corrections and comments
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Authors and funding
3 authors.
Funding
Abstract
We investigated the clinical and molecular pattern of two young men affected by dysferlinopathy, that was first diagnosed as polymyositis. We show that their symptoms and clinical course although progressive were peculiar, as well as their biopsy suggesting a subsequent analysis of dysferlin protein by western blotting. Molecular analysis of dysferlin gene revealed pathogenetic mutations in both cases. In such cases a screening with Western blot followed by DNA analysis of dysferlin gene is therefore recommended. We present a diagnostic algorythm for patients with suspected myositis but presenting signs of disease progression and poor response to steroids.
Indexed as
Identifiers
22616201PMC3298102What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.