KEGG   VARIANT: 7170v2
Entry
7170v2                      Variant                                
Name
TPM3 gain of function mutation
Type
Gain of function
Gene
TPM3  tropomyosin 3 [KO:K09290]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 191030
Network
nt06539  Cytoskeleton in muscle cells
Disease
H01810  Congenital myopathy
Reference
  Authors
Donkervoort S, Papadaki M, de Winter JM, Neu MB, Kirschner J, Bolduc V, Yang ML, Gibbons MA, Hu Y, Dastgir J, Leach ME, Rutkowski A, Foley AR, Kruger M, Wartchow EP, McNamara E, Ong R, Nowak KJ, Laing NG, Clarke NF, Ottenheijm C, Marston SB, Bonnemann CG
  Title
TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype.
  Journal
Ann Neurol 78:982-994 (2015)
DOI:10.1002/ana.24535
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