An analysis of mitochondrial variation in cardiomyopathy patients from the 100,000 genomes cohort: m.4300A>G as a cause of genetically elusive hypertrophic cardiomyopathy

An analysis of mitochondrial variation in cardiomyopathy patients from the 100,000 genomes cohort: m.4300A>G as a cause of genetically elusive hypertrophic cardiomyopathy

Abstract Background A significant proportion of cardiomyopathy patients remain genetically unsolved. Our aim was to use the large genomes cohort of the 100,000 genomes project (100KGP) to explore the proportion of potentially causal mitochondrial (mtDNA) variants in cardiomyopathy patients, particul...

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Main Authors: Luis R. Lopes, William L. Macken, Seth Du Preez, Huafrin Kotwal, Konstantinos Savvatis, Neha Sekhri, Saidi A. Mohiddin, Renata Kabiljo, Robert D. S. Pitceathly
Format: Article
Language:English
Published: BMC 2024-12-01
Series:Human Genomics
Subjects:
Mitochondrial DNA
m.4300A>G
Hypertrophic cardiomyopathy
Whole Genome Sequencing
Online Access:https://doi.org/10.1186/s40246-024-00702-9
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https://doi.org/10.1186/s40246-024-00702-9

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