Article
Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome.
American journal of human genetics - 1 Oct 1997
Bleyl S B, Mumford B R, Thompson V, Carey J C, Pysher T J, Chin T K, Ward K
Abstract excerpt
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...
Topics
- Abnormalities, Multiple
- Acyltransferases
- Alleles
- Amino Acid Sequence
- Amino Acid Substitution
- Animals
- Caenorhabditis elegans
- Cardiomyopathy, Dilated
- Chromosome Mapping
- Conserved Sequence
- Female
- Genetic Linkage
- Haplotypes