Posts Tagged ‘Barth Syndrome’

Barth Syndrome | Cause

Monday, February 16th, 2009 2,084 views

The cause of Barth syndrome is hard to explain in layman’s terms. The genetic and molecular pathology of Barth syndrome are explained by experts as mutations in the BTHS gene, G4.5 tafazzin (TAZ). Tafazzin (TAZ) gene or TAZ mRNA is located at Xq28. It is associated with cardiolipin molecules in the electron transport chain and the mitochondrial membrane structure. Barth syndrome is found exclusively in males. (more…)

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Barth Syndrome | Congenital Metabolic and Neuromuscular Disorder

Monday, February 16th, 2009 4,176 views

Barth syndrome is a rare genetic disorder that affects boys. According to the National Institute of Neurologic Disorders and Stroke, Barth syndrome is passed from mother to son through the “X” sex chromosome. Baby boys born affected by Barth syndrome are usually at risk of serious infections. (more…)

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