KEGG   VARIANT: 8557v1
Entry
8557v1                      Variant                                
Name
TCAP mutation
Type
Loss of function
Gene
TCAP  titin-cap [KO:K19879]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604488
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00593  Limb-girdle muscular dystrophy
Reference
PMID:10655062
  Authors
Moreira ES, Wiltshire TJ, Faulkner G, Nilforoushan A, Vainzof M, Suzuki OT, Valle G, Reeves R, Zatz M, Passos-Bueno MR, Jenne DE
  Title
Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin.
  Journal
Nat Genet 24:163-6 (2000)
DOI:10.1038/72822
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