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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Pubblicato in:BMC Neurol
Autori principali: Hosaka, Takashi, Ishii, Kazuhiro, Miura, Takeshi, Mezaki, Naomi, Kasuga, Kensaku, Ikeuchi, Takeshi, Tamaoka, Akira
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2017
Soggetti:
Case Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5603021/
https://ncbi.nlm.nih.gov/pubmed/28915852
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12883-017-0959-2
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