ArticleAmerican journal of human genetics1997
Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 70 papers, 1 of them a synthesis that pooled it.
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.
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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
70 citing papers in PubMed, 1 synthesis or guideline pooled it, 292 citations in OpenAlex.
- Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.Journal of the American Heart Association · 2019Pooled it
- Barth Syndrome:Genes · 2025Review
- Left Ventricular Non-Compaction: Evolving Concepts.Journal of clinical medicine · 2024Review
- RETRACTED: Left Ventricular Non-Compaction in Children: Aetiology and Diagnostic CriteriaDiagnostics (Basel, Switzerland) · 2024Review
- Genetic Evaluation and Screening in Cardiomyopathies: Opportunities and Challenges for Personalized Medicine.Journal of personalized medicine · 2023Review
- Excessive Trabeculation of the Left Ventricle: JACC: Cardiovascular Imaging Expert Panel Paper.JACC. Cardiovascular imaging · 2023Review
- Elamipretide for Barth syndrome cardiomyopathy: gradual rebuilding of a failed power grid.Heart failure reviews · 2022Review
- A novel missense mutation in obscurin gene in a Chinese consanguineous family with left ventricular noncompaction.Journal of geriatric cardiology : JGC · 2022Article
- Article
- Left Ventricular Noncompaction in Children: The Role of Genetics, Morphology, and Function for Outcome.Journal of cardiovascular development and disease · 2022Review
- A Comprehensive Outlook on Dilated Cardiomyopathy (DCM): State-Of-The-Art Developments with Special Emphasis on OMICS-Based Approaches.Journal of cardiovascular development and disease · 2022Review
- Implication of a novel truncating mutation in titin as a cause of autosomal dominant left ventricular noncompaction.Journal of geriatric cardiology : JGC · 2022Article
- Barth Syndrome Cardiomyopathy: An Update.Genes · 2022Review
- Cardiomyopathies in Children and Systemic Disorders When Is It Useful to Look beyond the Heart?Journal of cardiovascular development and disease · 2022Review
- Long QT syndrome and left ventricular non-compaction in a family with KCNH2 mutation: A case report.Frontiers in pediatrics · 2022Article
- State-of-the art review: Noncompaction cardiomyopathy in pediatric patients.Heart failure reviews · 2022Review
- Noncompaction Cardiomyopathy-History and Current Knowledge for Clinical Practice.Journal of clinical medicine · 2021Review
- Barth syndrome cardiomyopathy: targeting the mitochondria with elamipretide.Heart failure reviews · 2021Review
- Left Ventricular Noncompaction: New Insights into a Poorly Understood Disease.Current cardiology reviews · 2021Review
- Hypertrophic Cardiomyopathy in Children: Pathophysiology, Diagnosis, and Treatment of Non-sarcomeric Causes.Frontiers in pediatrics · 2021Review
10 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Loss-of-function mutations in the G4.5 gene have been shown to cause Barth syndrome (BTHS), an X-linked disorder characterized by cardiac and skeletal myopathy, short stature, and neutropenia. We recently reported a family with a severe X-linked cardiomyopathy described as isolated noncompaction of the left ventricular myocardium (INVM). Other findings associated with BTHS (skeletal myopathy, neutropenia, growth retardation, elevated urinary organic acids, and mitochondrial abnormalities) were either absent or inconsistent. A linkage study of the X chromosome localized INVM to the Xq28 region near the BTHS locus, suggesting that these disorders are allelic. We screened the G4.5 gene for mutations in this family with SSCP and direct sequencing and found a novel glycine-to-arginine substitution at position 197. This position is conserved in a homologous Caenorhabditis elegans protein. We conclude that INVM is a severe allelic variant of BTHS with a specific effect on the heart. This finding provides further structure-function information about the G4.5 gene product and has implications for unexplained cases of severe infantile hypertrophic cardiomyopathy in males.
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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.