ArticleJournal of inherited metabolic disease2015
The pathogenomics of McArdle disease--genes, enzymes, models, and therapeutic implications.
Article in Journal of inherited metabolic disease, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.
- Cardiac comorbidities in McArdle disease: case report and systematic review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024Pooled it
- Article
- Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis.International journal of molecular sciences · 2022Article
- Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies.Genes · 2021Review
- Molecular diagnosis of McArdle disease using whole-exome sequencing.Experimental and therapeutic medicine · 2021Article
- The combined prevalence of classified rare rheumatic diseases is almost double that of ankylosing spondylitis.Orphanet journal of rare diseases · 2021Article
- Review
- Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models.International journal of molecular sciences · 2020Review
- Identification of a novel PYGM mutation in a McArdle disease patient misdiagnosed as hypokalemic periodic paralysis.Journal of endocrinological investigation · 2020Article
- McArdle Disease vs. Stiff-Person Syndrome: A Case Report Highlighting the Similarities Between Two Rare and Distinct Disorders.Frontiers in neurology · 2020Article
- Biochemical and clinical aspects of glycogen storage diseases.The Journal of endocrinology · 2018Review
- Wave of renal impairment.BMJ case reports · 2018Article
- Taking advantage of an old concept, "illegitimate transcription", for a proposed novel method of genetic diagnosis of McArdle disease.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Rodent models for resolving extremes of exercise and health.Physiological genomics · 2016Review
Corrections and comments
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Authors and funding
6 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Numerous biomedical advances have been made since Carl and Gerty Cori discovered the enzyme phosphorylase in the 1940s and the Scottish physician Brian McArdle reported in 1951 a previously 'undescribed disorder characterized by a gross failure of the breakdown in muscle of glycogen'. Today we know that this disorder, commonly known as 'McArdle disease', is caused by inherited deficiency of the muscle isoform of glycogen phosphorylase (GP). Here we review the main aspects of the 'pathogenomics' of this disease including, among others: the spectrum of mutations in the gene (PYGM) encoding muscle GP; the interplay between the different tissue GP isoforms in cellular cultures and in patients; what can we learn from naturally occurring and recently laboratory-generated animal models of the disease; and potential therapies.
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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.