Article
Screening UBQLN-2 in French frontotemporal lobar degeneration and frontotemporal lobar degeneration-amyotrophic lateral sclerosis patients.
Neurobiology of aging - 1 Aug 2013
Lattante Serena, Le Ber Isabelle, Camuzat Agnès, Pariente Jérémie, Brice Alexis, Kabashi Edor
Abstract excerpt
The ubiquilin-2 gene (UBQLN-2) is the only amyotrophic lateral sclerosis (ALS)-related gene mapping on the X chromosome. Mutations in the PXX domain of UBQLN-2 have been first described in ALS patients with a mutational frequency of 2.6% in familial ALS cases with no evidence of male-to-male transmission. Different populations have been further tested with mutations largely distributed in the gene and lower...
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