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Insights into genotype-phenotype correlation in hypertrophic cardiomyopathy. Findings from 18 Spanish families with a single mutation in MYBPC3.
Heart. 2010 Dec;96(24):1980-4. doi: 10.1136/hrt.2010.200402.
Heart. 2010.
PMID: 21088121
However, only a few studies have analysed genotype-phenotype correlations in small series of patients. The present study sought to determine the clinical characteristics, penetrance and prognosis of HCM with an identical mutation in MYBPC3. ...
However, only a few studies have analysed genotype-phenotype correlations in small series of patients. The present study sough …
Isogenic Pairs of hiPSC-CMs with Hypertrophic Cardiomyopathy/LVNC-Associated ACTC1 E99K Mutation Unveil Differential Functional Deficits.
Smith JGW, Owen T, Bhagwan JR, Mosqueira D, Scott E, Mannhardt I, Patel A, Barriales-Villa R, Monserrat L, Hansen A, Eschenhagen T, Harding SE, Marston S, Denning C.
Smith JGW, et al.
Stem Cell Reports. 2018 Nov 13;11(5):1226-1243. doi: 10.1016/j.stemcr.2018.10.006. Epub 2018 Nov 1.
Stem Cell Reports. 2018.
PMID: 30392975
Free PMC article.
Unexpectedly, pathological phenotypes were less evident in E99K-expressing hiPSC-CMs from the two sons. Mechanistic insight from Ca(2+) handling expression studies prompted pharmacological rescue experiments, wherein dual dantroline/ranolazine treatment was most effective. …
Unexpectedly, pathological phenotypes were less evident in E99K-expressing hiPSC-CMs from the two sons. Mechanistic insight from Ca(2 …
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