Expression of HCM causing mutations: Lessons learnt from genotype-phenotype studies of the South African founder MYH7 A797T mutation
Date
2000-12
Authors
Moolman-Smook, Johanna
De Lange, Willem
Corfield, Valerie
Brink, Paul
Journal Title
Journal ISSN
Volume Title
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Abstract
Genotype-phenotype correlations provide another perspective in studies seeking to identify the factors that underlie the clinical variability that is a feature of several inherited diseases. This approach has been particularly revealing in investigations into the molecular causes and phenotypic heterogeneity associated with hypertrophic cardiomyopathy (HCM), a common inherited primary cardiac disorder.1 2 Although, as its name suggests, hypertrophy may be a noticeable feature of the disease, it is not invariant, nor does the degree of hypertrophy necessarily correlate with the risk of sudden cardiac death (SCD), which is the most feared consequence of HCM.
Description
Keywords
Amino Acid Substitution, Hypertrophic cardiomyopathy in adolescents, Gene expression regulation, Genotype, Phenotype, Threonine, Heart -- Hypertrophy, Familial hypertrophic cardiomyopathy
Citation
Moolman-Smook, J., De Lange, W., Corfield, V. & Brink, P. 2000. Expression of HCM causing mutations: Lessons learnt from genotype-phenotype studies of the South African founder MYH7 A797T mutation. J. Med. Genet., 37(12):951-956, doi:10.1136/jmg.37.12.951.