ArticleJournal of medical genetics1995
X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome.
Article in Journal of medical genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 61 citations in OpenAlex.
- Neutropenia in Barth syndrome: characteristics, risks, and management.Current opinion in hematology · 2019Trial
- Cardiolipin dynamics promote membrane remodeling by mitochondrial OPA1.Nature communications · 2025Article
- Left Ventricular Noncompaction Cardiomyopathy in Children: A Focus on Genetic and Molecular Mechanisms.Reviews in cardiovascular medicine · 2025Review
- Barth Syndrome:Genes · 2025Review
- Overexpression of mitochondrial oxodicarboxylate carrier (ODC1) preserves oxidative phosphorylation in a yeast model of Barth syndrome.Disease models & mechanisms · 2017Article
- Natural history of Barth syndrome: a national cohort study of 22 patients.Orphanet journal of rare diseases · 2013Article
- Barth syndrome.Orphanet journal of rare diseases · 2013Review
- A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome.JIMD reports · 2013Article
- The cellular and molecular mechanisms for neutropenia in Barth syndrome.European journal of haematology · 2012Article
- Differing clinical courses and outcomes in two siblings with Barth syndrome and left ventricular noncompaction.European journal of pediatrics · 2012Article
- Eponym: Barth syndrome.European journal of pediatrics · 2011Review
- Clinical practice: heart failure in children. Part I: clinical evaluation, diagnostic testing, and initial medical management.European journal of pediatrics · 2010Review
- Barth syndrome is associated with a cognitive phenotype.Journal of developmental and behavioral pediatrics : JDBP · 2007Article
- Pathological changes of the heart in sudden infant death.International journal of legal medicine · 2003Review
- X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060).Journal of inherited metabolic disease · 1999Review
- Creatine supplementation in health and disease. Effects of chronic creatine ingestion in vivo: down-regulation of the expression of creatine transporter isoforms in skeletal muscle.Molecular and cellular biochemistry · 1998Article
- Mapping of X-linked myxomatous valvular dystrophy to chromosome Xq28.American journal of human genetics · 1998Article
- Mutation characterization and genotype-phenotype correlation in Barth syndrome.American journal of human genetics · 1997Article
- Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome.American journal of human genetics · 1997Article
- The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.American journal of human genetics · 1997Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A number of families with X linked dilated cardiomyopathy with onset in infancy or childhood have now been described, with varying clinical and biochemical features. Of these, one condition, Barth syndrome (BTHS), can be diagnosed clinically by the characteristic associated features of skeletal myopathy, short stature, and neutropenia, but not all of these features are always present. Molecular genetic studies have delineated the gene for BTHS, which maps to distal Xq28, from the gene for so called X linked dilated cardiomyopathy (XLCM), a teenage onset dilated cardiomyopathy, recently mapped to the 5' portion of the dystrophin locus at Xp21. We report a large family in which male infants have died with congenital dilated cardiomyopathy, and there is a strong family history of unexplained death in infant males over at least four generations. Death always occurred in early infancy, without development of the characteristic features associated with Barth syndrome. Molecular analysis localised the gene in this family to Xq28 with lod scores of 2.3 at theta = 0.0 with dinucleotide repeat markers, p26 and p39, near DXS15 and at F8C. The proximal limit to the localisation of the gene in this family is defined by a recombinant at DXS296, while the distal limit could not be differentiated from the telomere. This localisation is consistent with a hypothesis of allelic and clinical heterogeneity at the BTHS locus in Xq28.
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