ArticleJournal of human genetics2016
New massive parallel sequencing approach improves the genetic characterization of congenital myopathies.
Article in Journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 17 citations in OpenAlex.
- Correlation of phenotype with genotype and protein structure in RYR1-related disorders.Journal of neurology · 2018Trial
- Clinical, Histological, and Genetic Characterization of a Large Cohort of 49 Patients With Nebulin-Related Congenital Myopathy.Human mutation · 2026Article
- Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants.European journal of human genetics : EJHG · 2023Article
- Muscle Biopsy: A Requirement for Precision Medicine in Adult-Onset Myopathy.Journal of clinical medicine · 2022Article
- Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature.Skeletal muscle · 2020Review
- Severe Neonatal RYR1 Myopathy With Pathological Features of Congenital Muscular Dystrophy.Journal of neuropathology and experimental neurology · 2019Article
- The Art of Muscle Biopsy in the New Genetic Era: A Narrative Review.Iranian journal of child neurology · 2019Review
- Novel Variants in Individuals withFrontiers in neurology · 2018Article
- Congenital myopathies: clinical phenotypes and new diagnostic tools.Italian journal of pediatrics · 2017Review
Corrections and comments
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Authors and funding
12 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital myopathies (CMs) are a heterogeneous group of muscle diseases characterized by hypotonia, delayed motor skills and muscle weakness with onset during the first years of life. The diagnostic workup of CM is highly dependent on the interpretation of the muscle histology, where typical pathognomonic findings are suggestive of a CM but are not necessarily gene specific. Over 20 loci have been linked to these myopathies, including three exceptionally large genes (TTN, NEB and RYR1), which are a challenge for molecular diagnosis. We developed a new approach using massive parallel sequencing (MPS) technology to simultaneously analyze 20 genes linked to CMs. Assay design was based on the Ion AmpliSeq strategy and sequencing runs were performed on an Ion PGM system. A total of 12 patients were analyzed in this study. Among the 2534 variants detected, 14 pathogenic mutations were successfully identified in the DNM2, NEB, RYR1, SEPN1 and TTN genes. Most of these had not been documented and/or fully characterized, hereby contributing to expand the CM mutational spectrum. The utility of this approach was demonstrated by the identification of mutations in 70% of the patients included in this study, which is relevant for CMs especially considering its wide phenotypic and genetic heterogeneity.
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