Cataplexy and ataxia: red flags for the diagnosis of DNA methyltransferase 1 mutation

Mutations in exons 21 and 20 of the DMNT1 gene have been associated with two multisystem neurodegenerative diseases that involve central and peripheral nervous system ADCADN (Autosomal Dominant Cerebellar Ataxia with Deafness and Narcolepsy) and HSAN 1E (Hereditary Sensory and Autonomic Neuropathy I...

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Publicat a:J Clin Sleep Med
Autors principals: Postiglione, Emanuela, Antelmi, Elena, Pizza, Fabio, Vandi, Stefano, La Morgia, Chiara, Carelli, Valerio, Nassetti, Stefania, Seri, Marco, Plazzi, Giuseppe
Format: Artigo
Idioma:Inglês
Publicat: American Academy of Sleep Medicine 2020
Matèries:
Case Reports
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7052993/
https://ncbi.nlm.nih.gov/pubmed/31957642
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5664/jcsm.8140
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