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Published in 2019 at "Journal of Cardiovascular Electrophysiology"
DOI: 10.1111/jce.13862
Abstract: We present the case of a 45‐year‐old male patient with dilated cardiomyopathy who suffers from multiple implantable cardioverter defibrillator (ICD) shocks. The analysis of the ICD tracing and the electrophysiological study allows to conclude that…
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Keywords:
multiple icd;
cardiomyopathy mechanism;
dilated cardiomyopathy;
shocks patient ... See more keywords
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Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23126685
Abstract: Fukutin encoded by FKTN is a ribitol 5-phosphate transferase involved in glycosylation of α-dystroglycan. It is known that mutations in FKTN affect the glycosylation of α-dystroglycan, leading to a dystroglycanopathy. Dystroglycanopathies are a group of…
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Keywords:
patient dilated;
compound heterozygous;
fktn variants;
variants patient ... See more keywords