ReviewJournal of muscle research and cell motility2019
Nemaline myopathies: a current view.
Review in Journal of muscle research and cell motility, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 98 papers, 1 of them a synthesis that pooled it.
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Who cites it
98 citing papers in PubMed, 1 synthesis or guideline pooled it, 183 citations in OpenAlex.
- A Systematic Review and Meta-Analysis of the Prevalence of Congenital Myopathy.Frontiers in neurology · 2021Pooled it
- Klhl41b orchestrates sarcomere assembly and growth to drive skeletal muscle hypertrophy in vivo.Skeletal muscle · 2026Article
- Prenatal Diagnosis and Functional Analysis of Two Compound Heterozygous Variants in the KLHL40 Gene Causing Nemaline Myopathy 8.Molecular genetics & genomic medicine · 2026Article
- ACTA1-Related Adult-Onset Scapuloperoneal Myopathy With Cores and Rods.Neuropathology and applied neurobiology · 2026Article
- The D2.B10-DmdThe American journal of pathology · 2026Article
- Genetic Susceptibility to Sport-Related Muscle Injuries: Insights from the Literature and Novel Gene Candidates.International journal of molecular sciences · 2025Review
- Adenylosuccinate synthetase deficiency and purine nucleotide cycle disruption impair neuromuscular function in Caenorhabditis elegans.Molecular genetics and metabolism · 2025Article
- Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy.Neurology. Genetics · 2025Article
- Generation of an induced pluripotent stem cell line (NCHi023-A) from a 41-year-old male with nemaline myopathy carrying autosomal dominant ACTA1 c.809-10C>A mutation.Stem cell research · 2025Article
- Generation of a novel mouse model of nemaline myopathy due to recurrent NEB exon 55 deletion.Skeletal muscle · 2025Article
- Human skeletal muscle fiber heterogeneity beyond myosin heavy chains.Nature communications · 2025Article
- A Novel Splice Site Variant inMolecular syndromology · 2025Article
- An unusual cause of hypertrophic cardiomyopathy in an infant: A case report and brief literature review.La Tunisie medicale · 2025Review
- Proteomic analysis of nemaline myopathy in infants reveals distinct common dysregulated proteins and cellular pathways.Frontiers in neurology · 2025Article
- Article
- Muscular Dystrophies.Advances in experimental medicine and biology · 2025Review
- Effects of Aging on Orbicularis Oculi Muscle Strength and Ultrastructure in Dermatochalasis: A Pilot Study.Journal of clinical medicine · 2024Article
- Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era.Acta neuropathologica communications · 2024Article
- Generation of a novel mouse model of nemaline myopathy due to recurrentResearch square · 2024Article
- Focus on cardiac troponin complex: From gene expression to cardiomyopathy.Genes & diseases · 2024Review
38 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Nemaline myopathies are a heterogenous group of congenital myopathies caused by de novo, dominantly or recessively inherited mutations in at least twelve genes. The genes encoding skeletal α-actin (ACTA1) and nebulin (NEB) are the commonest genetic cause. Most patients have congenital onset characterized by muscle weakness and hypotonia, but the spectrum of clinical phenotypes is broad, ranging from severe neonatal presentations to onset of a milder disorder in childhood. Most patients with adult onset have an autoimmune-related myopathy with a progressive course. The wide application of massively parallel sequencing methods is increasing the number of known causative genes and broadening the range of clinical phenotypes. Nemaline myopathies are identified by the presence of structures that are rod-like or ovoid in shape with electron microscopy, and with light microscopy stain red with the modified Gömöri trichrome technique. These rods or nemaline bodies are derived from Z lines (also known as Z discs or Z disks) and have a similar lattice structure and protein content. Their shape in patients with mutations in KLHL40 and LMOD3 is distinctive and can be useful for diagnosis. The number and distribution of nemaline bodies varies between fibres and different muscles but does not correlate with severity or prognosis. Additional pathological features such as caps, cores and fibre type disproportion are associated with the same genes as those known to cause the presence of rods. Animal models are advancing the understanding of the effects of various mutations in different genes and paving the way for the development of therapies, which at present only manage symptoms and are aimed at maintaining muscle strength, joint mobility, ambulation, respiration and independence in the activities of daily living.
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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.