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pubmed-article:16352453pubmed:abstractTextTTN-encoded titin, CSRP3-encoded muscle LIM protein, and TCAP-encoded telethonin are Z-disc proteins essential for the structural organization of the cardiac sarcomere and the cardiomyocyte's stretch sensor. All three genes have been established as cardiomyopathy-associated genes for both dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM). Here, we sought to characterize the frequency, spectrum, and phenotype associated with HCM-associated mutations in these three genes in a large cohort of unrelated patients evaluated at a single tertiary outpatient center.lld:pubmed
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pubmed-article:16352453pubmed:articleTitleGenotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin.lld:pubmed
pubmed-article:16352453pubmed:affiliationDepartment of Internal Medicine, Division of Cardiovascular Diseases, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN 55905, USA.lld:pubmed
pubmed-article:16352453pubmed:publicationTypeJournal Articlelld:pubmed
pubmed-article:16352453pubmed:publicationTypeResearch Support, Non-U.S. Gov'tlld:pubmed
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