Associated Papers
MYH7 in cardiomyopathy and skeletal muscle myopathy.
Gao Y et al.
Molecular and Cellular Biochemistry, 2024
Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.
Lipov A et al.
Nature Cardiovascular Research, 2023
Severe hypertrophic cardiomyopathy in a patient with a homozygous MYH7 gene variant.
Serra W et al.
Heliyon, 2022
Disease mutations in striated muscle myosins.
Parker F et al.
Biophysical Reviews, 2020
Clinical diversity of MYH7-related cardiomyopathies: Insights into genotype-phenotype correlations.
Hershkovitz T et al.
American Journal of Medical Genetics. Part A, 2019
Prevalence and Clinical Implication of Double Mutations in Hypertrophic Cardiomyopathy: Revisiting the Gene-Dose Effect.
Fourey D et al.
Circulation. Cardiovascular Genetics, 2017
Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).
Pinto YM et al.
European Journal of Human Genetics : Ejhg, 2011
A homozygous MYBPC3 gene mutation associated with a severe phenotype and a high risk of sudden death in a family with hypertrophic cardiomyopathy.
Ortiz MF et al.
Revista Espanola De Cardiologia, 2009
Impact of multiple gene mutations in determining the severity of cardiomyopathy and heart failure.
Tsoutsman T et al.
Clinical and Experimental Pharmacology & Physiology, 2008
Molecular and phenotypic effects of heterozygous, homozygous, and compound heterozygote myosin heavy-chain mutations.
Alpert NR et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2005
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
Richard P et al.
Circulation, 2003
Molecular mechanisms of inherited cardiomyopathies.
Fatkin D et al.
Physiological Reviews, 2002
Genetics of familial cardiomyopathies and arrhythmias.
Keller DI et al.
Swiss Medical Weekly, 2002
Homozygotes for a R869G mutation in the beta -myosin heavy chain gene have a severe form of familial hypertrophic cardiomyopathy.
Richard P et al.
Journal of Molecular and Cellular Cardiology, 2000