ArticlePloS one2013
An integrated diagnosis strategy for congenital myopathies.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 63 citations in OpenAlex.
- Iron Accumulation and Lipid Peroxidation in Cellular Models of Nemaline Myopathies.International journal of molecular sciences · 2025Article
- Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era.Acta neuropathologica communications · 2024Article
- Aligning with the 3Rs: alternative models for research into muscle development and inherited myopathies.BMC veterinary research · 2024Review
- Application of whole exome sequencing in the diagnosis of muscular disorders: a study of Taiwanese pediatric patients.Frontiers in genetics · 2024Article
- IMPatienT: An Integrated Web Application to Digitize, Process and Explore Multimodal PATIENt daTa.Journal of neuromuscular diseases · 2024Article
- Utilisation of exome sequencing for muscular disorders in Thai paediatric patients: diagnostic yield and mutational spectrum.Scientific reports · 2023Article
- Case report: identification of one frameshift variant and twoFrontiers in genetics · 2023Article
- Structural Insight Into Ryanodine Receptor Channelopathies.Frontiers in pharmacology · 2022Review
- Inherited Defects of the ASC-1 Complex in Congenital Neuromuscular Diseases.International journal of molecular sciences · 2021Review
- Congenital fiber-type disproportion presenting with type II respiratory failure after delivery: A case report.World journal of clinical cases · 2021Article
- Dominant or recessive mutations in theActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2020Article
- Structure and Function of the Human Ryanodine Receptors and Their Association with Myopathies-Present State, Challenges, and Perspectives.Molecules (Basel, Switzerland) · 2020Review
- Nebulin: big protein with big responsibilities.Journal of muscle research and cell motility · 2020Review
- Next-generation sequencing approach to hyperCKemia: A 2-year cohort study.Neurology. Genetics · 2019Article
- The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.American journal of human genetics · 2019Article
- Characterization and genetic diagnosis of centronuclear myopathies in seven Chinese patients.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2018Article
- Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept.Anesthesiology · 2018Review
- Calcium Dyshomeostasis in Tubular Aggregate Myopathy.International journal of molecular sciences · 2016Review
- Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders.Journal of human genetics · 2016Article
- Neo-epitope Peptides as Biomarkers of Disease Progression for Muscular Dystrophies and Other Myopathies.Journal of neuromuscular diseases · 2016Review
Corrections and comments
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Authors and funding
19 authors at 6 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital myopathies are severe muscle disorders affecting adults as well as children in all populations. The diagnosis of congenital myopathies is constrained by strong clinical and genetic heterogeneity. Moreover, the majority of patients present with unspecific histological features, precluding purposive molecular diagnosis and demonstrating the need for an alternative and more efficient diagnostic approach. We used exome sequencing complemented by histological and ultrastructural analysis of muscle biopsies to identify the causative mutations in eight patients with clinically different skeletal muscle pathologies, ranging from a fatal neonatal myopathy to a mild and slowly progressive myopathy with adult onset. We identified RYR1 (ryanodine receptor) mutations in six patients and NEB (nebulin) mutations in two patients. We found novel missense and nonsense mutations, unraveled small insertions/deletions and confirmed their impact on splicing and mRNA/protein stability. Histological and ultrastructural findings of the muscle biopsies of the patients validated the exome sequencing results. We provide the evidence that an integrated strategy combining exome sequencing with clinical and histopathological investigations overcomes the limitations of the individual approaches to allow a fast and efficient diagnosis, accelerating the patient's access to a better healthcare and disease management. This is of particular interest for the diagnosis of congenital myopathies, which involve very large genes like RYR1 and NEB as well as genetic and phenotypic heterogeneity.
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