Article
Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients.
Neurobiology of aging - 1 Dec 2014
Chaussenot Annabelle, Le Ber Isabelle, Ait-El-Mkadem Samira, Camuzat Agnès, de Septenville Anne, Bannwarth Sylvie, Genin Emmanuelle C, Serre Valérie, Augé Gaëlle, Brice Alexis, Pouget Jean, Paquis-Flucklinger Véronique
Abstract excerpt
Mutations in the CHCHD10 gene have been recently identified in a large family with a complex phenotype variably associating frontotemporal dementia (FTD) with amyotrophic lateral sclerosis (ALS), cerebellar ataxia, myopathy, and hearing impairment. CHCHD10 encodes a protein located in the mitochondrial intermembrane space and is likely involved in mitochondrial genome stability and maintenance of cristae...
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