Barth Syndome: Difference between revisions
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[https://www.barthsyndrome.org/about-barth-syndrome/overview-of-barth-syndrome Weblink] | [https://www.barthsyndrome.org/about-barth-syndrome/overview-of-barth-syndrome Weblink] | ||
Contributed by [[Sparagna GC | Contributed by [[Sparagna GC]] 2016-04-24 | ||
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Latest revision as of 14:16, 4 May 2016
Description
Barth Syndome (BTHS) is an X-linked genetic condition that is caused by a mutation in the tafazzin gene (taz). This mutation causes cardiolipin abnormalities, cardiomyopathy, neutropenia, muscle weakness, growth delay, and exercise intolerance.
Contributed by Sparagna GC 2016-04-24
Abbreviation: BTHS