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

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...

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Bibliographic Details

Published in:	Human molecular genetics Vol. 21; no. 10; p. 2205
Main Authors:	Winkelmann, Juliane, Lin, Ling, Schormair, Barbara, Kornum, Birgitte R, Faraco, Juliette, Plazzi, Giuseppe, Melberg, Atle, Cornelio, Ferdinando, Urban, Alexander E, Pizza, Fabio, Poli, Francesca, Grubert, Fabian, Wieland, Thomas, Graf, Elisabeth, Hallmayer, Joachim, Strom, Tim M, Mignot, Emmanuel
Format:	Journal Article
Language:	English
Published:	England 15.05.2012
Subjects:	Amino Acid Sequence Cerebellar Ataxia - genetics Deafness - genetics DNA (Cytosine-5-)-Methyltransferase 1 DNA (Cytosine-5-)-Methyltransferases - genetics Exome Exons Genes, Dominant Humans Molecular Sequence Data Mutation Narcolepsy - genetics Pedigree Phenotype
ISSN:	1460-2083, 1460-2083
Online Access:	Get more information
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