ReviewFrontiers in neurology2022
Using gene panels in the diagnosis of neuromuscular disorders: A mini-review.
Review in Frontiers in neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 2 of them syntheses that pooled it.
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.
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
20 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- EAN 2024 Guideline on the Diagnostic Approach to Oligo/Asymptomatic HyperCKemia.European journal of neurology · 2026Guideline
- What Are the Normal Serum Creatine Kinase Values for Skeletal Muscle? A Worldwide Systematic Review.European journal of neurology · 2025Pooled it
- Neuromuscular Disorders in Children Through the Lens of Next-Generation Sequencing: A Study of Diagnostic Yield.International journal of molecular sciences · 2026Article
- Hereditary Myopathy With Early Respiratory Failure Associated With an IncidentalCase reports in genetics · 2026Article
- Update and recommendations on genetic testing for amyotrophic lateral sclerosis in clinical practice: a Brazilian expert view.Frontiers in neurology · 2026Review
- Genomics in Health and Biomedicine.Advances in experimental medicine and biology · 2026Review
- Bridging science and hope: the evolving story of gene therapy for neuromuscular diseases.Frontiers in cell and developmental biology · 2026Review
- Next-generation sequencing for pediatric-onset neuromuscular disorders unresolved by conventional diagnostic methods.Pediatric research · 2025Article
- Elevated Transaminases: Does It Always Warrant a Liver Biopsy? Lessons Learned From Pompe Disease.JIMD reports · 2025Article
- The utility of next generation sequencing targeted multigene panels in the Adult Neurogenetic Clinic at Tygerberg Hospital, South Africa.European journal of human genetics : EJHG · 2025Article
- NEUROMYODredger: Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries.Clinical genetics · 2025Article
- Comparative genetic diagnostic evaluation of pediatric neuromuscular diseases in a consanguineous population.Scientific reports · 2025Article
- The diagnostic journey of patients being investigated for myopathy in a tertiary centre in England.Journal of neurology · 2024Article
- The value of knowing: preferences for genetic testing to diagnose rare muscle diseases.Orphanet journal of rare diseases · 2024Article
- Article
- Behavioral variant frontotemporal dementia associated with GRN and ErbB4 gene mutations: a case report and literature review.BMC medical genomics · 2024Review
- A 4-Year-Old Boy with an Accidentally Detected Mutation in the RET Proto-Oncogene and Mutation in the Gene Encoding the Ryanodine Receptor1 (RyR1)-Case Report.Children (Basel, Switzerland) · 2023Article
- Understanding Challenges of Genetic Testing on Neuromuscular Disorders from the Parental Lens.Journal of personalized medicine · 2023Article
- Review
- Identification of germline cancer predisposition variants in pediatric sarcoma patients from somatic tumor testing.Scientific reports · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The diagnosis of inherited neuromuscular disorders is challenging due to their genetic and phenotypic variability. Traditionally, neurophysiology and histopathology were primarily used in the initial diagnostic approach to these conditions. Sanger sequencing for molecular diagnosis was less frequently utilized as its application was a time-consuming and cost-intensive process. The advent and accessibility of next-generation sequencing (NGS) has revolutionized the evaluation process of genetically heterogenous neuromuscular disorders. Current NGS diagnostic testing approaches include gene panels, whole exome sequencing (WES), and whole genome sequencing (WGS). Gene panels are often the most widely used, being more accessible due to availability and affordability. In this mini-review, we describe the benefits and risks of clinical genetic testing. We also discuss the utility, benefits, challenges, and limitations of using gene panels in the evaluation of neuromuscular disorders.
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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.