ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers, 1 of them a synthesis that pooled it.
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The trial behind it
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Who cites it
51 citing papers in PubMed, 1 synthesis or guideline pooled it, 98 citations in OpenAlex.
- Dyslipidemia in Muscular Dystrophy: A Systematic Review and Meta-Analysis.Journal of neuromuscular diseases · 2023Pooled it
- SORT LNPs encapsulating Cas9 mRNA achieve efficient editing in skeletal muscle in a dystrophic mouse model.Molecular therapy : the journal of the American Society of Gene Therapy · 2026Article
- Correction of aberrant splicing caused by intronic CAPN3 pathogenic variants using RNA-targeted therapeutic strategies in limb-girdle muscular dystrophy type R1.Orphanet journal of rare diseases · 2026Article
- Molecular characterization of a new R1925X point mutation mouse model for dysferlinopathy.Genes & diseases · 2026Article
- DAB2 in LGMD R2: a molecular link between disease progression and lipid dysregulation.JCI insight · 2026Article
- Analysis of Dystrophin-Associated Glycoproteins: Focus on Expression and Glycosylation of Dystroglycan in Skeletal Muscle.Methods in molecular biology (Clifton, N.J.) · 2026Article
- Sarcospan protects against LGMD R5 via remodeling of the sarcoglycan complex composition in dystrophic mice.The Journal of clinical investigation · 2025Article
- Calpainopathy (limb-girdle muscular dystrophy type R1): clinical features, diagnostic approaches, and biotechnological treatment methods.Journal of neuromuscular diseases · 2025Review
- Article
- Health-Related Quality-of-Life Outcomes in Patients with Recessive and Dominant LGMD: A Comparative Cross-Sectional Study.Muscles (Basel, Switzerland) · 2025Article
- From Doubt to Diagnosis: Canadian Patient Perspectives on a Limb-Girdle Muscular Dystrophy Diagnosis.Health expectations : an international journal of public participation in health care and health policy · 2025Article
- Antisense oligonucleotide-mediated exon 27 skipping restores dysferlin function in dysferlinopathy patient-derived muscle cells.Molecular therapy. Nucleic acids · 2025Article
- HeartMate 3 Left Ventricular Assist Device Implantation in a Pediatric Patient With Limb-Girdle Muscular Dystrophy.Ochsner journal · 2025Article
- Pediatric Soft Tissue Sarcoma in Limb-Girdle Muscular Dystrophy: Molecular Findings and Clinical Implications.The American journal of case reports · 2024Article
- Estimating carrier rates and prevalence of porphyria-associated gene variants in the Chinese population based on genetic databases.Orphanet journal of rare diseases · 2024Article
- Article
- The extracellular matrix differentially directs myoblast motility and differentiation in distinct forms of muscular dystrophy: Dystrophic matrices alter myoblast motility.Matrix biology : journal of the International Society for Matrix Biology · 2024Article
- The Dysferlinopathies Conundrum: Clinical Spectra, Disease Mechanism and Genetic Approaches for Treatments.Biomolecules · 2024Review
- Engineered mischarged transfer RNAs for correcting pathogenic missense mutations.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Article
- Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases.Human mutation · 2024Article
Corrections and comments
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Authors and funding
12 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeLimb-girdle muscular dystrophies (LGMD) are a genetically heterogeneous category of autosomal inherited muscle diseases. Many genes causing LGMD have been identified, and clinical trials are beginning for treatment of some genetic subtypes. However, even with the gene-level mechanisms known, it is still difficult to get a robust and generalizable prevalence estimation for each subtype due to the limited amount of epidemiology data and the low incidence of LGMDs.
methodsTaking advantage of recently published exome and genome sequencing data from the general population, we used a Bayesian method to develop a robust disease prevalence estimator.
resultsThis method was applied to nine recessive LGMD subtypes. The estimated disease prevalence calculated by this method was largely comparable with published estimates from epidemiological studies; however, it highlighted instances of possible underdiagnosis for LGMD2B and 2L.
conclusionThe increasing size of aggregated population variant databases will allow for robust and reproducible prevalence estimates of recessive disease, which is critical for the strategic design and prioritization of clinical trials.
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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.