CIDeRplusGeneral Information:
| Id: | 6,678 (click here to show other Interactions for entry) |
| Diseases: |
Barth syndrome
- [OMIM]
Cardiomyopathy Myopathy |
| Homo sapiens | |
| article | |
| Reference: | Clarke SL et al.(2013) Barth syndrome Orphanet J Rare Dis 8: 23 [PMID: 23398819] |
Interaction Information:
| Comment | Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA). Disabling mutations or deletions of the tafazzin (TAZ) gene, located at Xq28, cause the disorder by reducing remodeling of cardiolipin, a principal phospholipid of the inner mitochondrial membrane. |
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Formal Description Interaction-ID: 64569 |
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