ArticleNeuromuscular disorders : NMD2014
Approach to the diagnosis of congenital myopathies.
Article in Neuromuscular disorders : NMD, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06574919 (Clinical and Functional Assessment of Patients With Inherited Non-Duchenne Myopathies in Sohag University Hospital), which is not on this map. Cited by 123 papers, 3 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.
Clinical and Functional Assessment of Patients With Inherited Non-Duchenne Myopathies in Sohag University Hospital
Who cites it
123 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- KLHL40-Related Myopathy: A Systematic Review and Insight into a Follow-up Biomarker via a New Case Report.Genes · 2024Pooled it
- Pooled it
- A Systematic Review and Meta-Analysis of the Prevalence of Congenital Myopathy.Frontiers in neurology · 2021Pooled it
- Correlation of phenotype with genotype and protein structure in RYR1-related disorders.Journal of neurology · 2018Trial
- Aerobic Training in Patients with Congenital Myopathy.PloS one · 2016Trial
- Assessing Quality of Life in Genetic Cardiomyopathies: A Scoping Review.International journal of environmental research and public health · 2026Article
- Skipping the Biopsy: Real-World Experience of Whole-Exome Sequencing as First-Tier Testing in Pediatric Muscular Disorders.International journal of molecular sciences · 2026Article
- Incidence and Prevalence of Congenital Myopathies - A Population-Based Study From Western Sweden.Annals of neurology · 2026Article
- Molecular Bases of Myopathies and Their Impact on Clinical Practice: Advances and Future Perspectives.International journal of molecular sciences · 2026Review
- Fine-tuning striated muscle performance: conserved sarcomere-level mechanisms across insect and vertebrate systems.Frontiers in physiology · 2026Review
- Navigating gastrointestinal challenges in genetic myopathies: Diagnostic insights and future directions.World journal of methodology · 2025Article
- Long-term DNA methylation changes induced by age and elevated COSkeletal muscle · 2025Article
- Genetic and Structural Variations in Czech Patients With Congenital Myopathies.Clinical genetics · 2025Article
- Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel.Journal of neuromuscular diseases · 2025Article
- Respiratory Failure Associated With Mutations in the RYR1 Gene: A Case Report.Clinical case reports · 2025Article
- A novel deep intronic mutation expands the genotype spectrum of MYH7-related myopathies.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2025Article
- Integrative Approaches to Myopathies and Muscular Dystrophies: Molecular Mechanisms, Diagnostics, and Future Therapies.International journal of molecular sciences · 2025Review
- Review
- Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age.European journal of neurology · 2025Observational
- Iron Accumulation and Lipid Peroxidation in Cellular Models of Nemaline Myopathies.International journal of molecular sciences · 2025Article
63 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors.
Funding
Abstract
Over the past decade there have been major advances in defining the genetic basis of the majority of congenital myopathy subtypes. However the relationship between each congenital myopathy, defined on histological grounds, and the genetic cause is complex. Many of the congenital myopathies are due to mutations in more than one gene, and mutations in the same gene can cause different muscle pathologies. The International Standard of Care Committee for Congenital Myopathies performed a literature review and consulted a group of experts in the field to develop a summary of (1) the key features common to all forms of congenital myopathy and (2) the specific features that help to discriminate between the different genetic subtypes. The consensus statement was refined by two rounds of on-line survey, and a three-day workshop. This consensus statement provides guidelines to the physician assessing the infant or child with hypotonia and weakness. We summarise the clinical features that are most suggestive of a congenital myopathy, the major differential diagnoses and the features on clinical examination, investigations, muscle pathology and muscle imaging that are suggestive of a specific genetic diagnosis to assist in prioritisation of genetic testing of known genes. As next generation sequencing becomes increasingly used as a diagnostic tool in clinical practise, these guidelines will assist in determining which sequence variations are likely to be pathogenic.
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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.