| Literature DB >> 22676852 |
Perry T C van Doormaal1, Wouter van Rheenen, Marka van Blitterswijk, Raymond D Schellevis, Helenius J Schelhaas, Marianne de Visser, Anneke J van der Kooi, Jan H Veldink, Leonard H van den Berg.
Abstract
Recently it was discovered that mutations in the UBQLN2 gene were a cause of an X-linked dominant type of familial amyotrophic lateral sclerosis (ALS). We investigated the frequency of mutations in this gene in a cohort of 92 families with ALS in the Netherlands. Eight families were excluded because of male-to-male transmission. In the remaining 84 familial ALS cases no mutations were discovered in UBQLN2. Hence, UBQLN2 was not found to be a cause of familial ALS in the Netherlands.Entities:
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Year: 2012 PMID： 22676852 DOI： 10.1016/j.neurobiolaging.2012.02.032
Source DB: PubMed Journal: Neurobiol Aging ISSN： 0197-4580 Impact factor: 4.673