Article
The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients.
Neurobiology of aging - 1 Oct 2015
Wong Chun Hao, Topp Simon, Gkazi Athina Soragia, Troakes Claire, Miller Jack W, de Majo Martina, Kirby Janine, Shaw Pamela J, Morrison Karen E, de Belleroche Jacqueline, Vance Caroline A, Al-Chalabi Ammar, Al-Sarraj Safa, Shaw Christopher E, Smith Bradley N
Abstract excerpt
Mutations in CHCHD10 have recently been reported as a cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. To address the genetic contribution of CHCHD10 to ALS, we have screened a cohort of 425 UK ALS ± frontotemporal dementia patients and 576 local controls in all coding exons of CHCHD10 by Sanger sequencing. We identified a previously reported p.P34S variant that is also present in...
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