KEGG   VARIANT: 70v1
Entry
70v1                      Variant                                  
Name
ACTC1 mutation
Type
Loss of function
Gene
ACTC1  actin alpha cardiac muscle 1 [KO:K12314]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 102540
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00294  Dilated cardiomyopathy
H00546  Atrial septal defect
Reference
PMID:36158814
  Authors
Keyt LK, Duran JM, Bui QM, Chen C, Miyamoto MI, Silva Enciso J, Tardiff JC, Adler ED
  Title
Thin filament cardiomyopathies: A review of genetics, disease mechanisms, and emerging therapeutics.
  Journal
Front Cardiovasc Med 9:972301 (2022)
DOI:10.3389/fcvm.2022.972301
Reference
PMID:31430208
  Authors
Frank D, Yusuf Rangrez A, Friedrich C, Dittmann S, Stallmeyer B, Yadav P, Bernt A, Schulze-Bahr E, Borlepawar A, Zimmermann WH, Peischard S, Seebohm G, Linke WA, Baba HA, Kruger M, Unger A, Usinger P, Frey N, Schulze-Bahr E
  Title
Cardiac alpha-Actin (ACTC1) Gene Mutation Causes Atrial-Septal Defects Associated With Late-Onset Dilated Cardiomyopathy.
  Journal
Circ Genom Precis Med 12:e002491 (2019)
DOI:10.1161/CIRCGEN.119.002491
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