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Article

Age-related penetrance of the C9orf72 repeat expansion

12 May 2017

Abstract excerpt

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 developing disease in their twenties and a small portion of carriers surviving to their ninth decade without developing...

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PMID: 28522837
DOI: 10.1038/s41598-017-02364-1

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