Why the study?
Most genetic studies on cardiomyopathy have been conducted in Western countries, leaving limited data available for the Asian population.
Population
145 CMP patients in Malaysia
Design
Genetic sequencing study
Key result
Whole mitochondrial genome sequencing of 145 Malaysian cardiomyopathy patients identified 1,077 variants, including 3 potentially pathogenic novel variants and 2 confirmed pathogenic variants.
Authors
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May inform Asian CMP genetic evaluation; leaves open larger validation before practice change.
Cross-Sectional (n=145)
Whole mitochondrial genome sequencing in Malaysian cardiomyopathy patients identified 18 novel variants, including three potentially pathogenic ones, expanding the known genetic spectrum of the disease in Asian populations.
Kuan et al. (2022) conducted a cross-sectional in Cardiomyopathy (n=145). Mitochondrial DNA variants was evaluated on Mitochondrial genome mutation spectrum. Whole mitochondrial genome sequencing of 145 Malaysian cardiomyopathy patients identified 1,077 variants, including 3 potentially pathogenic novel variants and 2 confirmed pathogenic variants.