ReviewItalian journal of pediatrics2017
Congenital myopathies: clinical phenotypes and new diagnostic tools.
Review in Italian journal of pediatrics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers, 4 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.
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Who cites it
58 citing papers in PubMed, 4 syntheses or guidelines pooled it.
- Neuropsychological functioning and quality of life in congenital myopathies: a systematic review of children and caregiver outcomes.Frontiers in medicine · 2026Pooled it
- OXPHOS complex deficiency in congenital myopathy: A systematic review.European journal of clinical investigation · 2025Pooled it
- Pooled it
- A Systematic Review and Meta-Analysis of the Prevalence of Congenital Myopathy.Frontiers in neurology · 2021Pooled it
- Article
- Disease-associated mutations inbioRxiv : the preprint server for biology · 2026Article
- A Novel Bi-Allelic Mutation in the Paired Box 7 Gene Causing Congenital Myopathy 19 in an Indian Family.Annals of Indian Academy of Neurology · 2026Article
- Clinical and Genetic Spectrum ofMolecular syndromology · 2026Article
- Navigating gastrointestinal challenges in genetic myopathies: Diagnostic insights and future directions.World journal of methodology · 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
- Integrative Approaches to Myopathies and Muscular Dystrophies: Molecular Mechanisms, Diagnostics, and Future Therapies.International journal of molecular sciences · 2025Review
- Clinical and Pathological Features of Flexural Deformities Associated with Myopathies in Foals.Veterinary sciences · 2025Article
- Iron Accumulation and Lipid Peroxidation in Cellular Models of Nemaline Myopathies.International journal of molecular sciences · 2025Article
- Congenital muscular dystrophies and myopathies: the leading cause of genetic muscular disorders in eleven Chinese families.BMC musculoskeletal disorders · 2025Article
- Strategy for drug repurposing in fibroadipogenic replacement during muscle wasting: application to duchenne muscular dystrophy.Frontiers in cell and developmental biology · 2025Article
- Phenotypic Heterogeneity in ORAI-1-Associated Congenital Myopathy.Global medical genetics · 2024Article
- Article
- Unusual cause of muscle weakness, type II respiratory failure and pulmonary hypertension: a case report of ryanodine receptor type 1(RYR1)-related myopathy.BMC pulmonary medicine · 2024Article
- Disease spectrum of myopathies with elevated aldolase and normal creatine kinase.European journal of neurology · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors.
Funding
Abstract
Congenital myopathies are a group of genetic muscle disorders characterized clinically by hypotonia and weakness, usually from birth, and a static or slowly progressive clinical course. Historically, congenital myopathies have been classified on the basis of major morphological features seen on muscle biopsy. However, different genes have now been identified as associated with the various phenotypic and histological expressions of these disorders, and in recent years, because of their unexpectedly wide genetic and clinical heterogeneity, next-generation sequencing has increasingly been used for their diagnosis. We reviewed clinical and genetic forms of congenital myopathy and defined possible strategies to improve cost-effectiveness in histological and imaging diagnosis.
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Registered trials
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