ReviewF1000Research2018
Recent advances in understanding congenital myopathies.
Review in F1000Research, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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
14 citing papers in PubMed, 38 citations in OpenAlex.
- Identifying Genetic Predisposition to Dozer Lamb Syndrome: A Semi-Lethal Muscle Weakness Disease in Sheep.Genes · 2025Article
- Tirasemtiv enhances submaximal muscle tension in an Acta1:p.Asp286Gly mouse model of nemaline myopathy.The Journal of general physiology · 2024Article
- MicroRNAs as a Tool for Differential Diagnosis of Neuromuscular Disorders.Neuromolecular medicine · 2023Article
- Article
- Article
- Delivery of RNAs to Specific Organs by Lipid Nanoparticles for Gene Therapy.Pharmaceutics · 2022Review
- Inherited Defects of the ASC-1 Complex in Congenital Neuromuscular Diseases.International journal of molecular sciences · 2021Review
- The Impact of Next-Generation Sequencing on the Diagnosis, Treatment, and Prevention of Hereditary Neuromuscular Disorders.Molecular diagnosis & therapy · 2020Review
- Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience.Annals of clinical and translational neurology · 2020Article
- Changes in Expression and Cellular Localization of Rat Skeletal Muscle ClC-1 Chloride Channel in Relation to Age, Myofiber Phenotype and PKC Modulation.Frontiers in pharmacology · 2020Article
- A muscular hypotonia-associated STIM1 mutant at R429 induces abnormalities in intracellular CaScientific reports · 2019Article
- Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation.Skeletal muscle · 2019Article
- The Art of Muscle Biopsy in the New Genetic Era: A Narrative Review.Iranian journal of child neurology · 2019Review
- Nemaline Myopathy: A Case Report.Case reports in neurologyArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
By definition, congenital myopathy typically presents with skeletal muscle weakness and hypotonia at birth. Traditionally, congenital myopathy subtypes have been predominantly distinguished on the basis of the pathological hallmarks present on skeletal muscle biopsies. Many genes cause congenital myopathies when mutated, and a burst of new causative genes have been identified because of advances in gene sequencing technology. Recent discoveries include extending the disease phenotypes associated with previously identified genes and determining that genes formerly known to cause only dominant disease can also cause recessive disease. The more recently identified congenital myopathy genes account for only a small proportion of patients. Thus, the congenital myopathy genes remaining to be discovered are predicted to be extremely rare causes of disease, which greatly hampers their identification. Significant progress in the provision of molecular diagnoses brings important information and value to patients and their families, such as possible disease prognosis, better disease management, and informed reproductive choice, including carrier screening of parents. Additionally, from accurate genetic knowledge, rational treatment options can be hypothesised and subsequently evaluated
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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.