A carregar...

Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome

BACKGROUND: MEGDEL syndrome (3-MethylGlutaconic aciduria, Deafness, Encephalopathy, Leigh-like syndrome) is a severe neurometabolic disease with infantile onset. PHENOMENOLOGY SHOWN: Progressive and marked dystonia over a 6-year period in an adult male with MEGDEL syndrome. EDUCATIONAL VALUE: Genera...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Tremor Other Hyperkinet Mov (N Y)
Main Authors: Giron, Camille, Roze, Emmanuel, Degos, Bertrand, Méneret, Aurélie, Jardel, Claude, Lannuzel, Annie, Mochel, Fanny
Formato: Artigo
Idioma:Inglês
Publicado em: Columbia University Libraries/Information Services 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5910540/
https://ncbi.nlm.nih.gov/pubmed/29686941
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7916/D8VM5VBQ
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!