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Article

Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis

26 Sept 2014

Abstract excerpt

Sir, A recent study by Bannwarth and colleagues has shown that variation in the CHCHD10 gene is a cause of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) (Bannwarth et al., 2014). The study identified a c.176C > T (p.Ser59Leu, NM_213720.1) missense mutation in a multi-generational kindred. In the present study, we performed genome sequencing of four affected individuals from a...

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PMID: 25261972
DOI: 10.1093/brain/awu265

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