Article
X chromosome inactivation in carriers of Barth syndrome.
American journal of human genetics - 1 Nov 1998
Orstavik K H, Orstavik R E, Naumova A K, D'Adamo P, Gedeon A, Bolhuis P A, Barth P G, Toniolo D
Abstract excerpt
Barth syndrome (BTHS) is a rare X-linked recessive disorder characterized by cardiac and skeletal myopathy, neutropenia, and short stature. A gene for BTHS, G4.5, was recently cloned and encodes several novel proteins, named "tafazzins." Unique mutations have been found. No correlation between th...
Topics
- Adolescent
- Adult
- Aged
- Body Height
- Cardiomyopathies
- Child
- Exons
- Female
- Fragile X Mental Retardation Protein
- Genes, Recessive
- Genetic Carrier Screening
- Growth Disorders
- Humans
- Male
- Middle Aged
- Muscular Diseases
- Mutation, Missense
- Nerve Tissue Proteins