KEGG   VARIANT: 55679v1
Entry
55679v1                      Variant                               
Name
LIMS2 mutation
Type
Loss of function
Gene
LIMS2  LIM zinc finger domain containing 2 [KO:K23354]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607908
Network
nt06548  Integrin signaling
Disease
H00593  Limb-girdle muscular dystrophy
Reference
PMID:25589244
  Authors
Chardon JW, Smith AC, Woulfe J, Pena E, Rakhra K, Dennie C, Beaulieu C, Huang L, Schwartzentruber J, Hawkins C, Harms MB, Dojeiji S, Zhang M, Majewski J, Bulman DE, Boycott KM, Dyment DA
  Title
LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues.
  Journal
Clin Genet 88:558-64 (2015)
DOI:10.1111/cge.12561
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