Publications by authors named "P Glijnis"

Article Synopsis
  • Arrhythmogenic cardiomyopathy is a serious heart disease that can cause dangerous heart rhythms and sudden death.
  • A specific mutation called PLN-R14del is linked to this condition and has been found in many people around the world.
  • Scientists have made big improvements in understanding this mutation and are working on different treatments to help patients over the last 20 years.
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Novel techniques such as gene therapy are becoming available in an attempt to cure inherited diseases. Before these new therapies can be offered to patients, we need to be aware of potential reservations or objections, not only from patients and their surroundings but also from the public. In addition, legal issues and costs need attention before curative gene therapy can be applied in the clinic.

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The deletion of Arginine 14 of the phosholamban gene (PLN p.R14del) is associated with the pathogenesis of an inherited form of cardiomyopathy with prominent arrhythmias. Patients carrying the PLN R14del mutation are at risk of developing dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy.

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