Common pathogenic mechanism in patients with dropped head syndrome caused by different mutations in the MYH7 gene.
Sign Up to like & getrecommendations! Published in 2019 at "Gene"
DOI: 10.1016/j.gene.2019.02.011
Abstract: Mutations in the MYH7 gene are the source of an allelic series of diseases, including various cardiomyopathies and skeletal myopathies that usually manifest in adulthood. We observed a 1.5 y.o. male patient with congenital weaknesses… read more here.
Keywords: mutations myh7; myh7 gene; dropped head; head syndrome ... See more keywords
Left ventricular non-compaction cardiomyopathy: restrictive subtype with MYH7 gene mutation.
Sign Up to like & getrecommendations! Published in 2022 at "Cardiology in the young"
DOI: 10.1017/s1047951122002773
Abstract: Left ventricular non-compaction is a very rare, still unclassified congenital cardiomyopathy. Nine distinct subtypes of functional and anatomical left ventricular non-compaction have been identified. Studies on the prognosis and mortality of subtypes are ongoing. Our… read more here.
Keywords: ventricular non; restrictive subtype; non compaction; left ventricular ... See more keywords
Screening of MYH7 gene mutation sites in hypertrophic cardiomyopathy and its significance
Sign Up to like & getrecommendations! Published in 2019 at "Chinese Medical Journal"
DOI: 10.1097/cm9.0000000000000428
Abstract: Abstract Background: There have been few reports of mutations in the beta-myosin heavy chain (MYH7) gene in hypertrophic cardiomyopathy (HCM), which is associated with sudden cardiac death caused by HCM. This study aimed to screen… read more here.
Keywords: mutation sites; medicine; myh7 gene; gene ... See more keywords
Cautionary note on the use of Caenorhabditis elegans to study muscle phenotypes caused by mutations in the human MYH7 gene.
Sign Up to like & getrecommendations! Published in 2020 at "BioTechniques"
DOI: 10.2144/btn-2020-0012
Abstract: Mutations in the human MYH7 gene, encoding a slow skeletal muscle/β-cardiac myosin heavy chain, cause different types of myopathies. The nematode model Caenorhabditis elegans has frequently been employed to study the molecular and physiological consequences… read more here.
Keywords: human myh7; muscle; mutations human; caenorhabditis elegans ... See more keywords