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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Veröffentlicht in:	Human molecular genetics Jg. 21; H. 10; S. 2205
Hauptverfasser:	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
Sprache:	Englisch
Veröffentlicht:	England 15.05.2012
Schlagworte:	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
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