Why the study?
Does a custom DNA resequencing array effectively detect pathogenic mutations in patients with hypertrophic cardiomyopathy?
Population
38 unrelated patients with hypertrophic cardiomyopathy (HCM), including 17 familial and 21 sporadic cases.
Design
Cross-sectional
Key result
A custom DNA resequencing array achieved a 96.92% mean nucleotide call rate, identifying pathogenic mutations in 60% of familial and 10% of sporadic hypertrophic cardiomyopathy cases.
Authors
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May support targeted screening in familial HCM; leaves open prospective validation in sporadic cases.
Observational (n=38)
Does a custom DNA resequencing array effectively detect pathogenic mutations in patients with hypertrophic cardiomyopathy?
A custom DNA resequencing array provides a rapid and effective method for detecting pathogenic mutations in patients with hypertrophic cardiomyopathy, particularly in familial cases.
Fokstuen et al. (2008) conducted an observational in Hypertrophic cardiomyopathy (n=38). Custom DNA resequencing array was evaluated on Pathogenic mutation detection. A custom DNA resequencing array achieved a 96.92% mean nucleotide call rate, identifying pathogenic mutations in 60% of familial and 10% of sporadic hypertrophic cardiomyopathy cases.
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