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Article

A distinct clinical phenotype in a German kindred with motor neuron disease carrying aCHCHD10mutation

12 Feb 2015

Abstract excerpt

Sir, Emerging data provide evidence for CHCHD10 as a new candidate gene in familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) (Bannwarth et al., 2014; Johnson et al., 2014; Müller et al., 2014). This gene encodes a mitochondrial protein located in the intermembrane space (Bannwarth et al., 2014). Mutant CHCHD10 may lead to altered mitochondrial genome stability and maintenance of...

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PMID: 25681414
DOI: 10.1093/brain/awv014

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