Ontology highlight
ABSTRACT:
SUBMITTER: Montag J
PROVIDER: S-EPMC5742120 | biostudies-literature | 2017 Aug
REPOSITORIES: biostudies-literature
Montag Judith J Syring Mandy M Rose Julia J Weber Anna-Lena AL Ernstberger Pia P Mayer Anne-Kathrin AK Becker Edgar E Keyser Britta B Dos Remedios Cristobal C Perrot Andreas A van der Velden Jolanda J Francino Antonio A Navarro-Lopez Francesco F Ho Carolyn Yung CY Brenner Bernhard B Kraft Theresia T
Journal of muscle research and cell motility 20170801 3-4
HCM, the most common inherited cardiac disease, is mainly caused by mutations in sarcomeric genes. More than a third of the patients are heterozygous for mutations in the MYH7 gene encoding for the β-myosin heavy chain. In HCM-patients, expression of the mutant and the wildtype allele can be unequal, thus leading to fractions of mutant and wildtype mRNA and protein which deviate from 1:1. This so-called allelic imbalance was detected in whole tissue samples but also in individual cells. There is ...[more]