Ankyrin-B dysfunction predisposes to arrhythmogenic cardiomyopathy and is amenable to therapy

JD Roberts, NP Murphy, RM Hamilton… - The Journal of …, 2019 - Am Soc Clin Investig
Arrhythmogenic cardiomyopathy (ACM) is an inherited arrhythmia syndrome characterized
by severe structural and electrical cardiac phenotypes, including myocardial fibrofatty
replacement and sudden cardiac death. Clinical management of ACM is largely palliative,
owing to an absence of therapies that target its underlying pathophysiology, which stems
partially from our limited insight into the condition. Following identification of deceased ACM
probands possessing ANK2 rare variants and evidence of ankyrin-B loss of function on …

Ankyrin-B dysfunction predisposes to arrhythmogenic cardiomyopathy and is amenable to therapy

FI Marcus - 2019 - repository.arizona.edu
Arrhythmogenic cardiomyopathy (ACM) is an inherited arrhythmia syndrome characterized
by severe structural and electrical cardiac phenotypes, including myocardial fibrofatty
replacement and sudden cardiac death. Clinical management of ACM is largely palliative,
owing to an absence of therapies that target its underlying pathophysiology, which stems
partially from our limited insight into the condition. Following identification of deceased ACM
probands possessing ANK2 rare variants and evidence of ankyrin-B loss of function on …
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