Tag: skeletal muscle myopathy
Barth syndrome: A potential treatment for a rare disease
Barth syndrome is a rare disorder in males caused by a variant of the gene TAFAZZIN. It affects the metabolism of the fat molecule cardiolipin in mitochondria, resulting in the dysfunction of skeletal muscle and the heart. The syndrome doesn’t have a specific therapy, so patients who suffer from it have health problems their entire lives and are more likely […]
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