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Title:

Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy.

Document type:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Article
Author(s):
Winkelmann, J; Lin, L; Schormair, B; Kornum, BR; Faraco, J; Plazzi, G; Melberg, A; Cornelio, F; Urban, AE; Pizza, F; Poli, F; Grubert, F; Wieland, T; Graf, E; Hallmayer, J; Strom, TM; Mignot, E
Abstract:
Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is characterized by late onset (30-40 years old) cerebellar ataxia, sensory neuronal deafness, narcolepsy-cataplexy and dementia. We performed exome sequencing in five individuals from three ADCA-DN kindreds and identified DNMT1 as the only gene with mutations found in all five affected individuals. Sanger sequencing confirmed the de novo mutation p.Ala570Val in one family, and showed co-segregation of p.Val606Phe and p.Ala5...     »
Journal title abbreviation:
Hum Mol Genet
Year:
2012
Journal volume:
21
Journal issue:
10
Pages contribution:
2205-10
Language:
eng
Fulltext / DOI:
doi:10.1093/hmg/dds035
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/22328086
Print-ISSN:
0964-6906
TUM Institution:
Institut für Humangenetik; Neurologische Klinik und Poliklinik
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