ArticleMolecular genetics & genomic medicine2019
Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patients.
Article in Molecular genetics & genomic medicine, 2019. 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.
- Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders.Neurogenetics · 2024Article
- Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.Journal of clinical medicine · 2022Article
- Using gene panels in the diagnosis of neuromuscular disorders: A mini-review.Frontiers in neurology · 2022Review
- Prominent Asymmetric Muscle Weakness and Atrophy in Seronegative Immune-Mediated Necrotizing Myopathy.Diagnostics (Basel, Switzerland) · 2021Article
- Efficacy of levetiracetam in patients with episodic ataxia type 2 caused by CACNA1A mutation: three case reports.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Article
- Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report.BMC medical genomics · 2021Article
- The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases.International journal of molecular sciences · 2021Review
- Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients.Molecular genetics & genomic medicine · 2020Article
- Emery-Dreifuss muscular dystrophy.Muscle & nerve · 2020Review
- Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patients.Molecular genetics & genomic medicine · 2019Article
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7 authors.
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Abstract
backgroundMultigene panel sequencing (MGPS) is the first-line option in diagnostic testing for genetically heterogeneous but clinically similar conditions, such as neuromuscular disorders (NMDs). In this study, we aimed to assess the utility of comprehensive NMD MGPS and the need for updated panels.
methodsAll patients were analyzed by either of two versions of the NMD MGPS and by chromosomal microarray and karyotype testing. Four patients with negative NMD MGPS results underwent whole exome sequencing.
resultsIn total, 91 patients were enrolled, and a genetic diagnosis was made in 36 (39.6%); of these, 33 were diagnosed by the comprehensive NMD MGPS, two were confirmed by chromosomal microarray, and one was diagnosed by whole exome sequencing. For MGPS, the diagnostic yield of Version 2 (19/52; 36.5%) was a little higher than that of Version 1 (14/39; 35.9%), and one gene identified in Version 2 was not included in Version 1. A total of 36 definitive and nine possible causative variants were identified, of which 17 were novel.
conclusionA more comprehensive panel for NMD MGPS can improve the diagnostic efficiency in genetic testing. The rapid discovery of new disease-causing genes over recent years necessitates updates to existing gene panels.
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