The p.Ala2430Val mutation in filamin C causes a "hypertrophic myofibrillar cardiomyopathy"
The p.Ala2430Val mutation in filamin C causes a "hypertrophic myofibrillar cardiomyopathy"
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Publisher
Cham: Springer International Publishing
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Language
English
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Publisher
Cham: Springer International Publishing
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Contents
Hypertrophic cardiomyopathy (HCM) often leads to heart failure. Mutations in sarcomeric proteins are most frequently the cause of HCM but in many patients the gene defect is not known. Here we report on a young man who was diagnosed with HCM shortly after birth. Whole exome sequencing revealed a mutation in the
FLNC
gene (c.7289C > T; p.Ala24...
Alternative Titles
Full title
The p.Ala2430Val mutation in filamin C causes a "hypertrophic myofibrillar cardiomyopathy"
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TN_cdi_proquest_miscellaneous_2501254000
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2501254000
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ISSN
0142-4319
E-ISSN
1573-2657
DOI
10.1007/s10974-021-09601-1
