Barth Syndrome: Different Approaches to Diagnosis

Article ID	Journal	Published Year	Pages	File Type
8812644	The Journal of Pediatrics	2018	5 Pages	PDF

Abstract

The diagnosis of Barth syndrome is challenging owing to the wide phenotypic spectrum with allelic heterogeneity. Here we report 3 cases of Barth syndrome with phenotypic and allelic heterogeneity that were diagnosed by different approaches, including whole exome sequencing and final confirmation by reverse-transcription polymease chain reaction.

Keywords

RT-PCR TAZ gene MLCL Mitochondrial disease Whole exome sequencing electron transport chain Barth syndrome Sudden cardiac death Monolysocardiolipin ETc reverse transcription polymerase chain reaction Cardiolipin Dilated cardiomyopathy

Related Topics

Health Sciences Medicine and Dentistry Perinatology, Pediatrics and Child Health

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Barth Syndrome: Different Approaches to Diagnosis

Authors

Atsuko MD, PhD, MPH, Yoshihito PhD, Masakazu PhD, Yukiko MS, Tomoko MS, Yosuke PhD, Hiroko Harashima, Keiichi MD, PhD, Fukiko MD, PhD, Atsuko MD, PhD, Masayuki MD, PhD, Chiho MD, Ritsuo MD, PhD, Atsuhito MD, PhD, Akihiro PhD, Yasushi MD, PhD, Kei MD,