ReviewJournal of muscle research and cell motility2008
Pathological defects in congenital myopathies.
Review in Journal of muscle research and cell motility, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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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.
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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
19 citing papers in PubMed.
- Genomics of pediatric cardiomyopathy.Pediatric research · 2025Review
- Article
- A Rare Case of Severe Congenital RYR1-Associated Myopathy.Case reports in genetics · 2018Article
- Deficiency in Kelch protein Klhl31 causes congenital myopathy in mice.The Journal of clinical investigation · 2017Article
- Identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness.Journal of human genetics · 2014Article
- Muscle-specific AMPK β1β2-null mice display a myopathy due to loss of capillary density in nonpostural muscles.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2014Article
- Kelch proteins: emerging roles in skeletal muscle development and diseases.Skeletal muscle · 2014Review
- Novel excitation-contraction coupling related genes reveal aspects of muscle weakness beyond atrophy-new hopes for treatment of musculoskeletal diseases.Frontiers in physiology · 2014Review
- Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients.Human molecular genetics · 2013Article
- Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.American journal of human genetics · 2013Article
- Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease.Neuromuscular disorders : NMD · 2013Article
- An integrated diagnosis strategy for congenital myopathies.PloS one · 2013Article
- Congenital myopathy caused by a novel missense mutation in the CFL2 gene.Neuromuscular disorders : NMD · 2012Article
- Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.Neurogenetics · 2012Article
- Muscle biopsy.Journal of neurology · 2012Review
- Oxidative capacity and fatigability in run-trained malignant hyperthermia-susceptible mice.Muscle & nerve · 2012Article
- Consensus statement on standard of care for congenital myopathies.Journal of child neurology · 2012Article
- Dynamic regulation of sarcomeric actin filaments in striated muscle.Cytoskeleton (Hoboken, N.J.) · 2010Review
- Lack of Apobec2-related proteins causes a dystrophic muscle phenotype in zebrafish embryos.The Journal of cell biology · 2010Article
Corrections and comments
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Authors and funding
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital myopathies are a molecularly, pathologically and clinically heterogenous group of disorders defined by hypotonia and muscle weakness, that usually present at birth or early childhood, in association with a characteristic morphological defect. The most common morphological defects are nemaline rods, cores of varying size, central nuclei, and type I fibre hypotrophy, with or without an additional abnormality. The defective genes responsible for many of the congenital myopathies are known, but there is considerable clinico-pathological overlap. In particular, defects in more than one gene are associated with the presence of the same pathological feature, while defects in the same gene can result in more than one pathological feature. Understanding the complexities of these spectra is paramount to the elucidation of pathogenesis, and to the development of therapies.
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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.