A novel frameshift GRN mutation results in frontotemporal lobar degeneration with a distinct clinical phenotype in two siblings: case report and literature review

BACKGROUND: Progranulin gene (GRN) mutations are major causes of frontotemporal lobar degeneration. To date, 68 pathogenic GRN mutations have been identified. However, very few of these mutations have been reported in Asians. Moreover, some GRN mutations manifest with familial phenotypic heterogenei...

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Detalles Bibliográficos
Autores principales: Hosaka, Takashi, Ishii, Kazuhiro, Miura, Takeshi, Mezaki, Naomi, Kasuga, Kensaku, Ikeuchi, Takeshi, Tamaoka, Akira
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5603021/
https://www.ncbi.nlm.nih.gov/pubmed/28915852
http://dx.doi.org/10.1186/s12883-017-0959-2

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