Identification of a POLG Variant in a Family With Arrhythmogenic Cardiomyopathy and Left Ventricular Fibrosis

Timothy F. Spracklen; Paul R. Kasher; Sarah Kraus; Tarryn L. Botha; Donna J. Page; Stephen Kamuli; Zandile Booi; Ashley Chin; Nakita Laing; Bernard D. Keavney; Ntobeko A.B. Ntusi; Gasnat Shaboodien

doi:10.1161/CIRCGEN.120.003138

Identification of a POLG Variant in a Family With Arrhythmogenic Cardiomyopathy and Left Ventricular Fibrosis

Timothy F. Spracklen, Paul R. Kasher, Sarah Kraus, Tarryn L. Botha, Donna J. Page, Stephen Kamuli, Zandile Booi, Ashley Chin, Nakita Laing, Bernard D. Keavney, Ntobeko A.B. Ntusi, Gasnat Shaboodien

Research output: Contribution to journal › Article › peer-review

5 Citations (Scopus)

Original language	English
Pages (from-to)	E003138
Journal	Circulation. Genomic and precision medicine
Volume	14
Issue number	1
DOIs	https://doi.org/10.1161/CIRCGEN.120.003138
Publication status	Published - 1 Feb 2021
Externally published	Yes

Keywords

South Africa
arrhythmogenic right ventricular dysplasia
autopsy
heart failure
myocarditis

ASJC Scopus subject areas

Genetics
Cardiology and Cardiovascular Medicine
Genetics (clinical)

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1161/CIRCGEN.120.003138

Cite this

Spracklen, T. F., Kasher, P. R., Kraus, S., Botha, T. L., Page, D. J., Kamuli, S., Booi, Z., Chin, A., Laing, N., Keavney, B. D., Ntusi, N. A. B., & Shaboodien, G. (2021). Identification of a POLG Variant in a Family With Arrhythmogenic Cardiomyopathy and Left Ventricular Fibrosis. Circulation. Genomic and precision medicine, 14(1), E003138. https://doi.org/10.1161/CIRCGEN.120.003138

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title = "Identification of a POLG Variant in a Family With Arrhythmogenic Cardiomyopathy and Left Ventricular Fibrosis",

keywords = "South Africa, arrhythmogenic right ventricular dysplasia, autopsy, heart failure, myocarditis",

author = "Spracklen, {Timothy F.} and Kasher, {Paul R.} and Sarah Kraus and Botha, {Tarryn L.} and Page, {Donna J.} and Stephen Kamuli and Zandile Booi and Ashley Chin and Nakita Laing and Keavney, {Bernard D.} and Ntusi, {Ntobeko A.B.} and Gasnat Shaboodien",

year = "2021",

month = feb,

day = "1",

doi = "10.1161/CIRCGEN.120.003138",

language = "English",

volume = "14",

pages = "E003138",

journal = "Circulation. Genomic and precision medicine",

issn = "1942-325X",

publisher = "Lippincott Williams and Wilkins Ltd.",

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Spracklen, TF, Kasher, PR, Kraus, S, Botha, TL, Page, DJ, Kamuli, S, Booi, Z, Chin, A, Laing, N, Keavney, BD, Ntusi, NAB & Shaboodien, G 2021, 'Identification of a POLG Variant in a Family With Arrhythmogenic Cardiomyopathy and Left Ventricular Fibrosis', Circulation. Genomic and precision medicine, vol. 14, no. 1, pp. E003138. https://doi.org/10.1161/CIRCGEN.120.003138

TY - JOUR

T1 - Identification of a POLG Variant in a Family With Arrhythmogenic Cardiomyopathy and Left Ventricular Fibrosis

AU - Spracklen, Timothy F.

AU - Kasher, Paul R.

AU - Kraus, Sarah

AU - Botha, Tarryn L.

AU - Page, Donna J.

AU - Kamuli, Stephen

AU - Booi, Zandile

AU - Chin, Ashley

AU - Laing, Nakita

AU - Keavney, Bernard D.

AU - Ntusi, Ntobeko A.B.

AU - Shaboodien, Gasnat

PY - 2021/2/1

Y1 - 2021/2/1

KW - South Africa

KW - arrhythmogenic right ventricular dysplasia

KW - autopsy

KW - heart failure

KW - myocarditis

UR - http://www.scopus.com/inward/record.url?scp=85102211937&partnerID=8YFLogxK

U2 - 10.1161/CIRCGEN.120.003138

DO - 10.1161/CIRCGEN.120.003138

M3 - Article

C2 - 33276707

AN - SCOPUS:85102211937

SN - 1942-325X

VL - 14

SP - E003138

JO - Circulation. Genomic and precision medicine

JF - Circulation. Genomic and precision medicine

IS - 1

ER -

Identification of a POLG Variant in a Family With Arrhythmogenic Cardiomyopathy and Left Ventricular Fibrosis

Keywords

ASJC Scopus subject areas

UN SDGs

Access to Document

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