Cardiac and clinical phenotype in Barth syndrome
CT Spencer, RM Bryant, J Day, IL Gonzalez…�- …, 2006 - publications.aap.org
OBJECTIVE. Barth syndrome, an X-linked disorder that is characterized by cardiomyopathy,
neutropenia, skeletal myopathy, and growth delay, is caused by mutations in the taffazin
gene at Xq28 that result in cardiolipin deficiency and abnormal mitochondria. The clinical
phenotype in Barth syndrome has not been characterized systematically, and the condition
may be underrecognized. We sought to evaluate extent of cardioskeletal myopathy, potential
for arrhythmia, delays in growth, and biochemical correlates of disease severity in patients�…
neutropenia, skeletal myopathy, and growth delay, is caused by mutations in the taffazin
gene at Xq28 that result in cardiolipin deficiency and abnormal mitochondria. The clinical
phenotype in Barth syndrome has not been characterized systematically, and the condition
may be underrecognized. We sought to evaluate extent of cardioskeletal myopathy, potential
for arrhythmia, delays in growth, and biochemical correlates of disease severity in patients�…