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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Detalles Bibliográficos
Publicado en:J Clin Sleep Med
Main Authors: Postiglione, Emanuela, Antelmi, Elena, Pizza, Fabio, Vandi, Stefano, La Morgia, Chiara, Carelli, Valerio, Nassetti, Stefania, Seri, Marco, Plazzi, Giuseppe
Formato: Artigo
Idioma:Inglês
Publicado: American Academy of Sleep Medicine 2020
Assuntos:
Case Reports
Acceso en liña: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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