ArticleMuscle & nerve2010
Pseudometabolic presentation of dystrophinopathy due to a missense mutation.
Article in Muscle & nerve, 2010. 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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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
9 citing papers in PubMed, 29 citations in OpenAlex.
- Review
- Pediatric Paroxysmal Exercise-Induced Neurological Symptoms: Clinical Spectrum and Diagnostic Algorithm.Frontiers in neurology · 2021Review
- Fine mapping of hydrophobic contacts reassesses the organization of the first three dystrophin coiled-coil repeats.Protein science : a publication of the Protein Society · 2019Article
- Clinical Utility Gene Card for: Becker muscular dystrophy.European journal of human genetics : EJHG · 2018Article
- CUGC for Duchenne muscular dystrophy (DMD).European journal of human genetics : EJHG · 2018Article
- Mutations in GMPPB Presenting with Pseudometabolic Myopathy.JIMD reports · 2018Article
- Diagnostic evaluation of rhabdomyolysis.Muscle & nerve · 2015Article
- The muscular dystrophies.Continuum (Minneapolis, Minn.) · 2013Review
- A Novel Mutation in N-Terminal Actin-Binding Domain of the DMD Gene Presenting Becker Muscular Dystrophy as Recurrent Exertional Rhabdomyolysis: A Case Report.Annals of Indian Academy of NeurologyArticle
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
Exercise intolerance with myalgia, muscle stiffness, and recurrent rhabdomyolysis due to mutations in the DMD gene can mimic metabolic myopathies leading to delayed or inaccurate diagnoses. In this retrospective chart review, we report 3 unrelated boys with exertional myalgia, muscle stiffness, myoglobinuria, and normal neurological examination due to an identical point mutation in the DMD gene: a hemizygous T-to-C change in exon 15 (c.1724T>C) resulting in an amino acid substitution of leucine to proline at codon 575. Two of the 3 boys had normal dystrophin immunostaining and Western blot analysis in muscle. This missense mutation has been reported twice before, with at least 1 patient exhibiting rhabdomyolysis. Our report, however, is the first to describe in detail the clinical findings associated with this specific mutation. Further studies and clinical reports are needed to better understand the pathogenicity of the mutation.
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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.