Article
Kickboxing a cardiomyopathy: mitochondrial sequencing provides answer for young athlete and her family.
BMJ case reports - 11 Jan 2021
Dineen Elizabeth H, Torkamani Ali, Muse Evan D
Abstract excerpt
Mitochondrial diseases are rare, often go undiagnosed and can lead to devastating cascades of multisystem organ dysfunction. This report of a young woman with hearing loss and gestational diabetes illustrates a novel presentation of a cardiomyopathy caused by a previously described mutation in a mitochondrial gene, MT-TL1. She initially had biventricular heart dysfunction and ventricular arrhythmia that...
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