ArticlePloS one2021
Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre.
Article in PloS one, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 15 citations in OpenAlex.
- The Role of Muscle Biopsy in the Era of Modern Genomic Medicine-A Review.Journal of clinical medicine · 2026Review
- Neuromuscular Disorders in Children Through the Lens of Next-Generation Sequencing: A Study of Diagnostic Yield.International journal of molecular sciences · 2026Article
- Comparative genetic diagnostic evaluation of pediatric neuromuscular diseases in a consanguineous population.Scientific reports · 2025Article
- Utility of exome sequencing for the diagnosis of pediatric-onset neuromuscular diseases beyond diagnostic yield: a narrative review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024Review
- Application of whole exome sequencing in the diagnosis of muscular disorders: a study of Taiwanese pediatric patients.Frontiers in genetics · 2024Article
- Evaluation of Optical Genome Mapping in Clinical Genetic Testing of Facioscapulohumeral Muscular Dystrophy.Genes · 2023Article
- Utilisation of exome sequencing for muscular disorders in Thai paediatric patients: diagnostic yield and mutational spectrum.Scientific reports · 2023Article
- Diagnostic Challenges of Neuromuscular Disorders after Whole Exome Sequencing.Journal of neuromuscular diseases · 2023Article
- Muscle Biopsy: A Requirement for Precision Medicine in Adult-Onset Myopathy.Journal of clinical medicine · 2022Article
- Using gene panels in the diagnosis of neuromuscular disorders: A mini-review.Frontiers in neurology · 2022Review
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundOur aim was to present the experience of systematic, routine use of next generation sequencing (NGS) in clinical diagnostics of myopathies.
methodsExome sequencing was performed on patients with high risk for inherited myopathy, which were selected based on the history of the disease, family history, clinical presentation, and diagnostic workup. Exome target capture was performed, followed by sequencing on HiSeq 2500 or MiSeq platforms. Data analysis was performed using internally developed bioinformatic pipeline.
resultsThe study comprised 86 patients, including 22 paediatric cases (26%). The largest group were patients referred with an unspecified myopathy (47%), due to non-specific or incomplete clinical and laboratory findings, followed by congenital myopathies (22%) and muscular dystrophies (22%), congenital myotonias (6%), and mitochondrial myopathies (3%). Altogether, a diagnostic yield was 52%; a high diagnostic rate was present in paediatric patients (64%), while in patients with unspecified myopathies the rate was 35%. We found 51 pathogenic/likely pathogenic variants in 23 genes and two pathogenic copy number variations.
conclusionOur results provide evidence that phenotype driven exome analysis diagnostic approach facilitates the diagnostic rate of complex, heterogeneous disorders, such as myopathies, particularly in paediatric patients and patients with unspecified myopathies.
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