Population
6 male patients suspected of having Barth syndrome, presenting with cardiomyopathy, hypotonia, growth delay…
Design
Case_series
Authors
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Expands TAZ mutation spectrum in Barth syndrome; supports targeted testing but remains hypothesis-generating pending larger validation studies.
The identification of five novel TAZ gene mutations expands the genetic spectrum of Barth syndrome and highlights the diagnostic importance of lactic acidosis combined with 3-methylglutaconic aciduria.
Ferri et al. (2013) studied this question.
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