The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism

Familial cortical myoclonic tremor and epilepsy is a phenotypically and genetically heterogeneous autosomal dominant disorder characterized by the presence of cortical myoclonic tremor and epilepsy that is often accompanied of additional neurological features. Despite the numerous familial studies p...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Martí-Massó, Jose Felix, Bergareche, Alberto, Makarov, Vladimir, Ruiz-Martinez, Javier, Gorostidi, Ana, de Munain, Adolfo López, Poza, Juan Jose, Striano, Pasquale, Buxbaum, Joseph D., Paisán-Ruiz, Coro
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3833949/
https://ncbi.nlm.nih.gov/pubmed/23955123
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00109-013-1075-4
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados