Article
New clinical and molecular insights on Barth syndrome.
Orphanet journal of rare diseases - 14 Feb 2013
Ferri Lorenzo, Donati Maria Alice, Funghini Silvia, Malvagia Sabrina, Catarzi Serena, Lugli Licia, Ragni Luca, Bertini Enrico, Vaz Frédéric M, Cooper David N, Guerrini Renzo, Morrone Amelia
Abstract excerpt
BACKGROUND: Barth syndrome (BS) is an X-linked infantile-onset cardioskeletal disease characterized by cardiomyopathy, hypotonia, growth delay, neutropenia and 3-methylglutaconic aciduria. It is caused by mutations in the TAZ gene encoding tafazzin, a protein involved in the metabolism of cardiolipin, a mitochondrial-specific phospholipid involved in mitochondrial energy production. METHODS: Clinical, biochemical...
Topics
- Acidosis, Lactic
- Acyltransferases
- Barth Syndrome
- Cardiomyopathies
- DNA Mutational Analysis
- Female
- Genetic Carrier Screening
- Heterozygote
- Humans
- Infant
- Infant, Newborn
- Male
- Muscle Hypotonia