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The mutated gene in Barth syndrome is tafazzin, and when this gene is defective it causes a loss or change in the biomolecule called cardiolipin. Cardiolipin is a phospholipid found in the mitochondria.

Matthew J. Toth

Science Director

Barth Syndrome Foundation, Inc.

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14y ago
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Q: The mitochondria do not function properly in people with Barth Syndrome because the mutated gene alerts or inhabits the production of what biomolecule?
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