A Type 2 Ryanodine Receptor Variant in the Helical Domain 2 Associated with an Impairment of the Adr...
A Type 2 Ryanodine Receptor Variant in the Helical Domain 2 Associated with an Impairment of the Adrenergic Response
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Publisher
Switzerland: MDPI AG
Journal title
Language
English
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Publication information
Publisher
Switzerland: MDPI AG
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Scope and Contents
Contents
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is triggered by exercise or acute emotion in patients with normal resting electrocardiogram. The major disease-causing gene is RYR2, encoding the cardiac ryanodine receptor (RyR2). We report a novel RYR2 variant, p.Asp3291Val, outside the four CPVT mutation hotspots, in three CPVT familie...
Alternative Titles
Full title
A Type 2 Ryanodine Receptor Variant in the Helical Domain 2 Associated with an Impairment of the Adrenergic Response
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8235491
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8235491
Other Identifiers
ISSN
2075-4426
E-ISSN
2075-4426
DOI
10.3390/jpm11060579
