Why the study?
Does the location and type of MYH7 gene mutations affect disease severity in individuals with cardiomyopathy?
Population
Individuals with cardiomyopathy and mutations in the myosin heavy chain 7 (MYH7) gene
Design
Systematic_review
Authors
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May inform MYH7 cardiomyopathy prognosis and counseling; extends genotype-phenotype correlations via systematic synthesis.
Does the location and type of MYH7 gene mutations affect disease severity in individuals with cardiomyopathy?
Mutations in the head region of the MYH7 gene and those causing significant amino acid changes are associated with more severe cardiomyopathy phenotypes.
Walsh et al. (2009) studied this question.
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