KEGG   VARIANT: 8048v1
Entry
8048v1                      Variant                                
Name
CSRP3 mutation
Type
Loss of function
Gene
CSRP3  cysteine and glycine rich protein 3 [KO:K09377]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600824
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00292  Hypertrophic cardiomyopathy
H00294  Dilated cardiomyopathy
Reference
  Authors
Mohapatra B, Jimenez S, Lin JH, Bowles KR, Coveler KJ, Marx JG, Chrisco MA, Murphy RT, Lurie PR, Schwartz RJ, Elliott PM, Vatta M, McKenna W, Towbin JA, Bowles NE
  Title
Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis.
  Journal
Mol Genet Metab 80:207-15 (2003)
DOI:10.1016/s1096-7192(03)00142-2
Reference
  Authors
Geier C, Perrot A, Ozcelik C, Binner P, Counsell D, Hoffmann K, Pilz B, Martiniak Y, Gehmlich K, van der Ven PF, Furst DO, Vornwald A, von Hodenberg E, Nurnberg P, Scheffold T, Dietz R, Osterziel KJ
  Title
Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy.
  Journal
Circulation 107:1390-5 (2003)
DOI:10.1161/01.cir.0000056522.82563.5f
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