ArticleEuropean journal of pediatrics2014
Myoglobinuria as first clinical sign of a primary alpha-sarcoglycanopathy.
Article in European journal of pediatrics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
13 citing papers in PubMed, 22 citations in OpenAlex.
- Rhabdomyolysis: a narrative review.Arquivos de neuro-psiquiatria · 2026Review
- Sarcoglycanopathies: From clinical diagnosis to new promising therapies.Journal of neuromuscular diseases · 2025Review
- Unveiling a Rare Coexistence: Duchenne Muscular Dystrophy with Charcot-Marie-Tooth Disease Type 1A Presentation.Annals of Indian Academy of Neurology · 2024Article
- The etiology of rhabdomyolysis: an interaction between genetic susceptibility and external triggers.European journal of neurology · 2021Article
- Sarcoglycan A mutation in miniature dachshund dogs causes limb-girdle muscular dystrophy 2D.Skeletal muscle · 2021Article
- Gene Delivery for Limb-Girdle Muscular Dystrophy Type 2D by Isolated Limb Infusion.Human gene therapy · 2019Article
- Identification of a novel SGCA missense mutation in a case of limb-girdle muscular dystrophy 2D with the absence of four sarcoglycan proteins.Neuropathology : official journal of the Japanese Society of Neuropathology · 2019Article
- Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients.Orphanet journal of rare diseases · 2019Article
- Mutations in GMPPB Presenting with Pseudometabolic Myopathy.JIMD reports · 2018Article
- Review
- Diagnostic evaluation of rhabdomyolysis.Muscle & nerve · 2015Article
- Rhabdomyolysis: a genetic perspective.Orphanet journal of rare diseases · 2015Review
- Gene expression in spermiogenesis.Cellular and molecular life sciences : CMLS · 2005Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
unlabelledMyoglobinuria is a frequent complication of metabolic myopathies and may also occur in Duchenne and Becker dystrophies but is not a typical sign of limb-girdle muscular dystrophy. We describe an unusual presentation of alpha-sarcoglycanopathy with myoglobinuria at the onset of the disease. The boy presented an episode of dark urine, identified as presence of blood by a urine dipstick, occurred 10 days after an episode of fever and sore throat treated with antibiotics. He was admitted to the hospital and investigated for post-infectious nephritis, but further analysis revealed the presence of myoglobinuria. Immunohistochemistry on muscle tissue revealed absent expression of α-sarcoglycan confirmed by detection of a homozygous mutation in the alpha-sarcoglycan gene. Myoglobinuria has been previously reported four times in sarcoglycanopathies but only once in alpha-sarcoglycanopathy.
conclusionThe present observation reinforces the idea that the myoglobinuria should be considered a manifestation of a primary sarcoglycanopathy even as the only recognizable sign at the debut of the disease.
Indexed as
Identifiers
What 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.