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Article

Intrafamilial clinical phenotypic heterogeneity with progranulin gene p.Glu498fs mutation.

Journal of the neurological sciences - 15 May 2012

Larner A J

Abstract excerpt

A patient with a progressive aphasia syndrome underwent progranulin gene (GRN) testing in light of a family history of early-onset dementia in two of her brothers, one of whom had been previously examined and had the phenotype of frontal variant frontotemporal dementia. The proband was found to have the p.Glu498fs mutation. This is only the second English family, and the fifth family overall, to be described with...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22280948
DOI: 10.1016/j.jns.2012.01.005

Genes

GRN

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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