KEGG   VARIANT: 51778v1
Entry
51778v1                      Variant                               
Name
MYOZ2 mutation
Type
Loss of function
Gene
MYOZ2  myozenin 2 [KO:K26050]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605602
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00292  Hypertrophic cardiomyopathy
Reference
PMID:18006477
  Authors
Duboscq-Bidot L, Xu P, Charron P, Neyroud N, Dilanian G, Millaire A, Bors V, Komajda M, Villard E
  Title
Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy.
  Journal
Cardiovasc Res 77:118-25 (2008)
DOI:10.1093/cvr/cvm015
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