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Article

X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome.

Journal of medical genetics - 1 May 1995

Gedeon A K, Wilson M J, Colley A C, Sillence D O, Mulley J C

Abstract excerpt

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...

Topics

Alleles
Cardiomyopathy, Dilated
DNA
DNA Probes
Female
Genetic Linkage
Genetic Markers
Genotype
Humans
Infant
Infant, Newborn
Lod Score

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Pedigree

Polymorphism, Genetic

Syndrome

X Chromosome

Source

Open in PubMed Open full text

Identifiers

PMID: 7616547
DOI: 10.1136/jmg.32.5.383
PMCID: PMC1050435

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7616547-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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