ArticleNeurology. Genetics2019
Congenital myopathies in the adult neuromuscular clinic: Diagnostic challenges and pitfalls.
Article in Neurology. Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 40 citations in OpenAlex.
- Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.Journal of neuromuscular diseases · 2021Pooled it
- Gene Panel Analysis Reveals Overlapping Genetic Causes of Inherited Cataracts and Other Ocular Phenotypes in Bulgarian Patients.Molecular genetics & genomic medicine · 2026Article
- INPP5K-related muscular dystrophy caused by a novel synonymous splicing variant in a Chinese patient: a case report.MedScience · 2026Article
- Epidemiological report and diagnostic approach used in the neuromuscular population of Liege, Belgium.Orphanet journal of rare diseases · 2025Article
- Like father, like son: RNA-sequencing from a 30-year-old muscle biopsy identifies a novel splice variant in ACTA1 as the cause of an attenuated nemaline myopathy phenotype.Neuromuscular disorders : NMD · 2025Article
- Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age.European journal of neurology · 2025Observational
- The diagnostic journey of patients being investigated for myopathy in a tertiary centre in England.Journal of neurology · 2024Article
- Myopathic manifestations across the adult lifespan of patients with malignant hyperthermia susceptibility: a narrative review.British journal of anaesthesia · 2024Review
- Protocol for a type 3 hybrid implementation cluster randomized clinical trial to evaluate the effect of patient and clinician nudges to advance the use of genomic medicine across a diverse health system.Implementation science : IS · 2024Article
- Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations.Genome medicine · 2024Article
- A novel, patient-derived RyR1 mutation impairs muscle function and calcium homeostasis in mice.The Journal of general physiology · 2024Article
- Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India.Journal of neuromuscular diseases · 2024Article
- Sporadic Late-Onset Nemaline Myopathy: Current Landscape.Current neurology and neuroscience reports · 2023Review
- BiallelicNeurology. Genetics · 2023Article
- Molecular signatures of inherited and acquired sporadic late onset nemaline myopathies.Acta neuropathologica communications · 2023Article
- SELENON-Related Myopathy Across the Life Span, a Cross-Sectional Study for Preparing Trial Readiness.Journal of neuromuscular diseases · 2023Observational
- Filamentous tangles with nemaline rods in MYH2 myopathy: a novel phenotype.Acta neuropathologica communications · 2021Article
- Delayed Respiratory Insufficiency and Extramuscular Abnormalities in Selenoprotein N-Related Myopathies.Frontiers in neurology · 2021Article
- Late-onset myopathies: clinical features and diagnosis.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2020Review
- Novel truncating mutations ofNeurology. Genetics · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo investigate the spectrum of undiagnosed congenital myopathies (CMs) in adults presenting to our neuromuscular clinic and to identify the pitfalls responsible for diagnostic delays.
methodsWe conducted a retrospective review of patients diagnosed with CM in adulthood in our neuromuscular clinic between 2008 and 2018. Patients with an established diagnosis of CM before age 18 years were excluded.
resultsWe identified 26 patients with adult-onset CM and 18 patients with pediatric-onset CM who were only diagnosed in adulthood. Among patients with adult onset, the median age at onset was 47 years, and the causative genes were
conclusionsCMs in adulthood represent a diagnostic challenge, as they may lack the clinical and myopathologic features classically associated with CM. Our findings underscore the need for a revision of the terminology and current classification of these disorders.
Identifiers
What OpenQuestion holds
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.