ArticleAmerican journal of human genetics1993
Independent origin of identical beta cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathy.
Article in American journal of human genetics, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00005251 (Genetic Analysis of Familial Hypertrophic Cardiomyopathy), which is not on this map. Cited by 18 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.
Genetic Analysis of Familial Hypertrophic Cardiomyopathy
Who cites it
18 citing papers in PubMed, 57 citations in OpenAlex.
- Evaluation of Cardiomyopathy-Related Target Genes by Next-Generation Sequencing Method and Investigation of the Phenotype-Genotype Relationship.Molecular syndromology · 2025Article
- MYH7 in cardiomyopathy and skeletal muscle myopathy.Molecular and cellular biochemistry · 2024Review
- End-stage Hypertrophic Cardiomyopathy with Advanced Heart Failure in Patients Carrying MYH7 R453 Variants: A Case Series.Internal medicine (Tokyo, Japan) · 2023Article
- Analysis of selected genes associated with cardiomyopathy by next-generation sequencing.Journal of clinical laboratory analysis · 2018Article
- Clinical and Mechanistic Insights Into the Genetics of Cardiomyopathy.Journal of the American College of Cardiology · 2016Review
- Targeted Next-Generation Sequencing Reveals Hot Spots and Doubly Heterozygous Mutations in Chinese Patients with Familial Cardiomyopathy.BioMed research international · 2015Article
- Unequal allelic expression of wild-type and mutated β-myosin in familial hypertrophic cardiomyopathy.Basic research in cardiology · 2011Article
- Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: a personal history.Circulation research · 2011Review
- Large-scale mutation screening in patients with dilated or hypertrophic cardiomyopathy: a pilot study using DGGE.Journal of molecular medicine (Berlin, Germany) · 2006Article
- To screen or not is not the question--it is when and how to screen.Circulation · 2003Article
- Modifier genes for hypertrophic cardiomyopathy.Current opinion in cardiology · 2002Review
- Molecular genetics and pathogenesis of hypertrophic cardiomyopathy.Minerva medica · 2001Review
- The molecular genetic basis for hypertrophic cardiomyopathy.Journal of molecular and cellular cardiology · 2001Review
- The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events.American journal of human genetics · 1999Article
- Functional analysis of myosin mutations that cause familial hypertrophic cardiomyopathy.Biophysical journal · 1998Article
- Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure.Heart (British Cardiac Society) · 1998Article
- Characterization of mutant myosins of Dictyostelium discoideum equivalent to human familial hypertrophic cardiomyopathy mutants. Molecular force level of mutant myosins may have a prognostic implication.The Journal of clinical investigation · 1997Article
- Multiple disease genes cause hypertrophic cardiomyopathy.British heart journal · 1994Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
The origins of the beta cardiac myosin heavy-chain (MHC) gene missense mutations that cause familial hypertrophic cardiomyopathy (FHC) in 14 families have been evaluated. Of eight different mutations, four were present in single families, while four occurred in two or more families. To investigate the origins of the four shared mutations, we defined the beta cardiac MHC haplotypes of each of the mutation-bearing chromosomes by determining the alleles present at three intragenic polymorphic loci. Two of the mutations (Arg453Cys and Val606Met) have arisen independently in each of three families, being found on different chromosomal backgrounds. A third mutation (Gly584Arg) is associated with identical haplotypes in two families with Portuguese ancestors, suggesting a founder effect. Haplotype analysis was uninformative for the fourth mutation (Arg403Gln). Thus, FHC-causing mutations have arisen independently in at least 12 of the 14 families studied, suggesting that the majority have arisen relatively recently as new mutations. This finding predicts the prevalence of disease-causing beta cardiac MHC mutations to be comparable in all population groups.
Indexed as
Identifiers
8250038PMC1682496W1577499133What 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.