ArticleExperimental and clinical cardiology2001
Familial hypertrophic cardiomyopathy owing to double heterozygosity for a 403Arg--> Trp mutation in exon 13 of the MYH7 gene and a novel mutation, 453Arg--> His, in exon 14 of the MYH7 gene: A case report.
Article in Experimental and clinical cardiology, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed.
- End-stage Hypertrophic Cardiomyopathy with Advanced Heart Failure in Patients Carrying MYH7 R453 Variants: A Case Series.Internal medicine (Tokyo, Japan) · 2023Article
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5 authors.
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Abstract
An unusual clinical history of a 23-year-old male proband with obstructive hypertrophic cardiomyopathy associated with a rare genotype is presented. Genetic analysis of the proband found evidence for two distinct mutations of the MYH7 gene (the gene coding for the beta-myosin heavy chain): 403Arg--> Trp in exon 13 and a novel mutation, 453Arg--> His, in exon 14. A heterozygous site mutation was identified in exon 13 in the proband's father but no mutation site was found in his mother. Thus, the novel mutation in exon 14 is a de novo mutation.
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20428263PMC2859004What OpenQuestion holds
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