ArticleHuman genetics2004
Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene.
Article in Human genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 1 of them a synthesis that pooled it.
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Who cites it
36 citing papers in PubMed, 1 synthesis or guideline pooled it, 81 citations in OpenAlex.
- KLHL40-Related Myopathy: A Systematic Review and Insight into a Follow-up Biomarker via a New Case Report.Genes · 2024Pooled it
- Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.European journal of human genetics : EJHG · 2025Review
- Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy.Neurology. Genetics · 2025Article
- Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects.Acta neuropathologica · 2024Article
- The number of Z-repeats and super-repeats in nebulin greatly varies across vertebrates and scales with animal size.The Journal of general physiology · 2021Article
- A Homozygous Deep Intronic Mutation Alters the Splicing of Nebulin Gene in a Patient With Nemaline Myopathy.Frontiers in neurology · 2021Article
- The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypes.Molecular genetics & genomic medicine · 2020Article
- Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism.Nature communications · 2020Article
- Nebulin: big protein with big responsibilities.Journal of muscle research and cell motility · 2020Review
- Nemaline myopathies: a current view.Journal of muscle research and cell motility · 2019Review
- New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy.PloS one · 2018Article
- Novel autosomal dominant TNNT1 mutation causing nemaline myopathy.Molecular genetics & genomic medicine · 2017Article
- Muscle weakness in respiratory and peripheral skeletal muscles in a mouse model for nebulin-based nemaline myopathy.Neuromuscular disorders : NMD · 2017Article
- Exome sequencing reveals a nebulin nonsense mutation in a dog model of nemaline myopathy.Mammalian genome : official journal of the International Mammalian Genome Society · 2016Article
- A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array.European journal of human genetics : EJHG · 2016Article
- Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.Orphanet journal of rare diseases · 2015Article
- Investigation of Pathogenic Genes in Chinese sporadic Hypertrophic Cardiomyopathy Patients by Whole Exome Sequencing.Scientific reports · 2015Article
- Clinical utility gene card for: Nemaline myopathy - update 2015.European journal of human genetics : EJHG · 2015Article
- Article
- Variants in Nebulin (NEB) Are Linked to the Development of Familial Primary Angle Closure Glaucoma in Basset Hounds.PloS one · 2015Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Nemaline myopathy (NM) is a neuromuscular disorder that is clinically diverse and can be attributed to mutations in any of several genes. The Ashkenazi Jewish population, which represents a relatively genetically homogeneous group, has an increased frequency of several genetic disorders and has been the beneficiary of genetic screening programs that have reduced the incidence of these diseases. The identification of individuals with NM in this population has prompted a study of its cause. Our study has revealed that five NM patients from five families bear an identical 2,502-bp deletion that lies in the nebulin gene and that includes exon 55 and parts of introns 54 and 55. The absence of this exon results in the generation of a transcript that encodes 35 fewer amino acids. An analysis of the gene frequency of this mutation in a random sample of 4,090 Ashkenazi Jewish individuals has revealed a carrier frequency of one in 108.
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