KEGG   VARIANT: 4624v1
Entry
4624v1                      Variant                                
Name
MYH6 mutation
Type
Loss of function
Gene
MYH6  myosin heavy chain 6 [KO:K17751]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 160710
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00292  Hypertrophic cardiomyopathy
H00294  Dilated cardiomyopathy
H00546  Atrial septal defect
H00729  Sick sinus syndrome
Reference
PMID:33983830
  Authors
Marian AJ
  Title
Molecular Genetic Basis of Hypertrophic Cardiomyopathy.
  Journal
Circ Res 128:1533-1553 (2021)
DOI:10.1161/CIRCRESAHA.121.318346
Reference
PMID:22194935
  Authors
Posch MG, Waldmuller S, Muller M, Scheffold T, Fournier D, Andrade-Navarro MA, De Geeter B, Guillaumont S, Dauphin C, Yousseff D, Schmitt KR, Perrot A, Berger F, Hetzer R, Bouvagnet P, Ozcelik C
  Title
Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects.
  Journal
PLoS One 6:e28872 (2011)
DOI:10.1371/journal.pone.0028872
Reference
PMID:35621855
  Authors
Anfinson M, Fitts RH, Lough JW, James JM, Simpson PM, Handler SS, Mitchell ME, Tomita-Mitchell A
  Title
Significance of alpha-Myosin Heavy Chain (MYH6) Variants in Hypoplastic Left Heart Syndrome and Related Cardiovascular Diseases.
  Journal
J Cardiovasc Dev Dis 9:jcdd9050144 (2022)
DOI:10.3390/jcdd9050144
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