KEGG   VARIANT: 442721v1
Entry
442721v1                      Variant                              
Name
LMOD2 mutation
Type
Loss of function
Gene
LMOD2  leiomodin 2 [KO:K22030]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 608006
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00294  Dilated cardiomyopathy
Reference
PMID:31517052
  Authors
Ahrens-Nicklas RC, Pappas CT, Farman GP, Mayfield RM, Larrinaga TM, Medne L, Ritter A, Krantz ID, Murali C, Lin KY, Berger JH, Yum SW, Carreon CK, Gregorio CC
  Title
Disruption of cardiac thin filament assembly arising from a mutation in LMOD2: A novel mechanism of neonatal dilated cardiomyopathy.
  Journal
Sci Adv 5:eaax2066 (2019)
DOI:10.1126/sciadv.aax2066
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