KEGG   VARIANT: 1674v1
Entry
1674v1                      Variant                                
Name
DES mutation
Type
Loss of function
Gene
DES  desmin [KO:K07610]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 125660
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00294  Dilated cardiomyopathy
H00595  Myofibrillar myopathies
H00656  Scapuloperoneal myopathy
Reference
  Authors
Bar H, Goudeau B, Walde S, Casteras-Simon M, Mucke N, Shatunov A, Goldberg YP, Clarke C, Holton JL, Eymard B, Katus HA, Fardeau M, Goldfarb L, Vicart P, Herrmann H
  Title
Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies.
  Journal
Hum Mutat 28:374-86 (2007)
DOI:10.1002/humu.20459
Reference
  Authors
Taylor MR, Slavov D, Ku L, Di Lenarda A, Sinagra G, Carniel E, Haubold K, Boucek MM, Ferguson D, Graw SL, Zhu X, Cavanaugh J, Sucharov CC, Long CS, Bristow MR, Lavori P, Mestroni L
  Title
Prevalence of desmin mutations in dilated cardiomyopathy.
  Journal
Circulation 115:1244-51 (2007)
DOI:10.1161/CIRCULATIONAHA.106.646778
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