ArticleInternational medical case reports journal2012
McArdle disease: a case report and review.
Article in International medical case reports journal, 2012. 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 trial behind it
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Who cites it
9 citing papers in PubMed, 19 citations in OpenAlex.
- Isoform analysis of heterozygous putative splicing variants at the allele level using nanopore long-read sequencing.Scientific reports · 2025Article
- Late Presentation of McArdle's Disease Mimicking Polymyalgia Rheumatica: A Case Report and Review of the Literature.Case reports in rheumatology · 2025Article
- Unusual presentation of PYGM gene mutation as late-onset McArdle disease with camptocormia: a case report.Journal of medical case reports · 2024Article
- Review
- Article
- An elderly diabetic patient with McArdle disease and recurrent rhabdomyolysis: a potential association with late hypoinsulinemia?BMC geriatrics · 2020Article
- Muscle diffusion tensor imaging in glycogen storage disease V (McArdle disease).European radiology · 2019Article
- McArdle disease: a unique study model in sports medicine.Sports medicine (Auckland, N.Z.) · 2014Review
- Six-Digit CPK and Mildly Affected Renal Function in McArdle Disease.Case reports in pediatrics · 2014Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
McArdle disease (glycogen storage disease type V) is a pure myopathy caused by an inherited deficit of myophosphorylase. The disease exhibits clinical heterogeneity, but patients typically experience exercise intolerance, acute crises of early fatigue, and contractures, sometimes with rhabdomyolysis and myoglobinuria, triggered by static muscle contractions or dynamic exercise. We present the case of a 54-year-old man with a lifelong history of fatigability, worsening on exertion. Laboratory evaluation revealed significant elevations in levels of creatine kinase (7924 U/L), lactate dehydrogenase (624 U/L), and myoglobulin (671 ng/mL). A muscle biopsy confirmed the presence of McArdle disease. This case report illustrates how, due to embarrassment, the patient hid his symptoms for many years and was eventually extremely relieved and "liberated" once McArdle disease was diagnosed 40 years later.
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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.