Shafei R, Woollacott IO, Mummery CJ, Bocchetta M, Guerreiro R, Bras J, Warren JD, Lashley T, Jaunmuktane Z, Rohrer JD. Two pathologically confirmed cases of novel mutations in the MAPT gene causing frontotemporal dementia. Neurobiol Aging. 2020 Mar;87:141.e15-141.e20. Epub 2019 Nov 20 PubMed.

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Mutations

  1. MAPT D252V
  2. MAPT G389_I392del