PMID 12707239 2003 Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
PMID 8673105 1996 Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle.
PMID 12021217 2002 Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology.
rs104893750 in
MYL3 gene and
Cardiomyopathy, Hypertrophic, Familial
PMID 21823217 2011 Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy.
PMID 22131351 2012 Mutations of ventricular essential myosin light chain disturb myosin binding and sarcomeric sorting.
PMID 12021217 2002 Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology.
PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
rs104893750 in
MYL3 gene and
Hypertrophic Cardiomyopathy
PMID 21823217 2011 Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy.
PMID 12021217 2002 Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology.
PMID 22131351 2012 Mutations of ventricular essential myosin light chain disturb myosin binding and sarcomeric sorting.
PMID 25342278 2014 Mutation analysis of the main hypertrophic cardiomyopathy genes using multiplex amplification and semiconductor next-generation sequencing.
PMID 28658286 2017 MYBPC3 mutations are associated with a reduced super-relaxed state in patients with hypertrophic cardiomyopathy.
PMID 25910212 2015 Widespread macromolecular interaction perturbations in human genetic disorders.
PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.