Barth syndrome
Evidence-based neurology checklist on barth syndrome: Genetics This is caused by mutations in the TAZ gene on chromosome Xq28 The transmission is X-linked recessive There is impairment of tafazzin function: this enzyme is involved in cardiolipin production Clinical features Investigations Specific…
Genetics
- This is caused by mutations in the TAZ gene on chromosome Xq28
- The transmission is X-linked recessive
- There is impairment of tafazzin function: this enzyme is involved in cardiolipin production
Clinical features
Investigations
Specific treatments
Treatment of cardiomyopathy
References
- Takeda A, Sudo A, Yamada M, et al. Eponym: Barth syndrome. Eur J Pediatr 2011; 170:1365-1367.
- Gonzalvez F, D'Aurelio M, Boutant M, et al. Barth syndrome: cellular compensation of mitochondrial dysfunction and apoptosis inhibition due to changes in cardiolipin remodeling linked to tafazzin (TAZ) gene mutation. Biochim Biophys Acta 2013; 1832:1194-206.
- Aprikyan AA, Khuchua Z. Advances in the understanding of Barth syndrome. Br J Haematol 2013; 161:330-338.
- Jefferies JL. Barth syndrome. Am J Med Genet C Semin Med Genet 2013; 163C:198-205.
