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Identical twins with the <i>C9orf72</i> repeat expansion are discordant for ALS

11 Sept 2014

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) is the most common motor neuron disease that could co-occur with frontotemporal dementia (FTD), characterized by early behavioral or language changes. Mutations causing ALS and FTD have been found in several often overlapping genes.1 The most common mutation for both syndromes is a noncoding G4C2 expansion in C9orf72 ,2,3 usually ranging from hundreds to thousands of repeats.4...

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PMID: 25209579
DOI: 10.1212/wnl.0000000000000886

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