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32) Although there are few special echocardiographic features in patients of PCD with cardiomyopathy, it has been reported that some of them present with characteristic changes on the electrocardiogram (ECG)

To overcome these troubles, we and two other teams identified the causative gene which was called OCTN2 historically, now known as SLC22A5, around the same time in 1999.3-5 The discovery allows making use of a simple DNA mutation test to make a definitive diagnosis

It helps with energy production and cellular work, which can affect systems in your body

Gastroenterology 1996

Figure 1: Patient enrollment chart

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