Barth Syndome

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Barth Syndome

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.

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Contributed by Sparagna GC 2016-04-24

Abbreviation: BTHS