Article
Cardiac and clinical phenotype in Barth syndrome.
Pediatrics - 1 Aug 2006
Spencer Carolyn T, Bryant Randall M, Day Jane, Gonzalez Iris L, Colan Steven D, Thompson W Reid, Berthy Julie, Redfearn Sharon P, Byrne Barry J
Abstract excerpt
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...
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