First case of autosomal dominant cerebellar ataxia with deafness and narcolepsy (ADCA-DN) with confirmed DMNT1 gene mutation in Spain. Review of the DMNT1 mutation syndromes
Author:
Publisher
Springer Science and Business Media LLC
Subject
Psychiatry and Mental health,Neurology (clinical),Dermatology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s10072-023-07094-z.pdf
Reference6 articles.
1. Winkelmann J, Lin L, Schormair B, Kornum BR, Faraco J, Plazzi G et al (2012) Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy. Hum Mol Genet 21(10):2205–2210
2. Melberg A, Hetta J, Dahl N, Nennesmo I, Bengtsson M, Wibom R et al (1995) Autosomal dominant cerebellar ataxia deafness and narcolepsy. J Neurol Sci 134(1–2):119–129
3. Klein CJ, Botuyan M, Wu Y, Ward CJ, Nicholson GA, Hammans S et al (2011) Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. Nat genet 43(6):595–600
4. Klein CJ. DNMT1 -related disorder. Gene review [Internet]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK84112/
5. Baets J, Duan X, Wu Y, Smith G, Seeley WW, Mademan I et al (2015) Defects of mutant DNMT1 are linked to a spectrum of neurological disorders. Brain 138(4):845–861
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