Age-related penetrance of the C9orf72 repeat expansion

Abstract A pathogenic hexanucleotide repeat expansion within the C9orf72 gene has been identified as the major cause of two neurodegenerative syndromes, amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). This mutation is known to have incomplete penetrance, with some patients dev...

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Bibliographic Details
Main Authors: Natalie A. Murphy, Karissa C. Arthur, Pentti J. Tienari, Henry Houlden, Adriano Chiò, Bryan J. Traynor
Format: Article
Language:English
Published: Nature Publishing Group 2017-05-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-017-02364-1