{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T10:00:11Z","timestamp":1761991211657,"version":"build-2065373602"},"reference-count":24,"publisher":"Cambridge University Press (CUP)","issue":"3","license":[{"start":{"date-parts":[[2016,5,10]],"date-time":"2016-05-10T00:00:00Z","timestamp":1462838400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":["www.cambridge.org"],"crossmark-restriction":true},"short-container-title":["Cardiol Young"],"published-print":{"date-parts":[[2017,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The present study was performed to identify the genotype of a hypertrophic cardiomyopathy family and investigate the clinicopathogenic characteristics and prognostic features of relevant genetic abnormalities. Target sequence capture sequencing was performed to screen for pathogenic alleles in a 32-year-old female patient (proband). Sanger sequencing was carried out to verify the results. Sanger sequencing was also performed on other family members to identify allele carriers. A survival analysis was carried out using published literature and our findings. We found that the proband and her son harboured a Gly716Arg sequence variant of the \u03b2-myosin heavy chain. Neither the proband\u2019s father nor the mother were carriers of this sequence variant; thus, the mutation was classified as \u201cde novo\u201d. Further survival analysis revealed that female patients appear to have a longer life expectancy compared with males. Our study may provide an effective approach for the genetic diagnosis of hypertrophic cardiomyopathy.<\/jats:p>","DOI":"10.1017\/s1047951116000731","type":"journal-article","created":{"date-parts":[[2016,5,10]],"date-time":"2016-05-10T11:04:18Z","timestamp":1462878258000},"page":"467-472","update-policy":"https:\/\/doi.org\/10.1017\/policypage","source":"Crossref","is-referenced-by-count":6,"title":["Familial hypertrophic cardiomyopathy caused by a de novo Gly716Arg mutation of the \u03b2-myosin heavy 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