Ataxia with ocular apraxia type 2 not responding to 4-aminopyridine: A rare mutation in the SETX gene in a Saudi patient

Ataxia with ocular apraxia type 2 is an autosomal recessive disorder caused by a mutation in the senataxin (SETX) gene. The disease is characterized by early onset cerebellar ataxia, cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia, and increased levels of α-fetoprotein. Report...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Intractable Rare Dis Res
Main Authors: Algahtani, Hussein, Shirah, Bader, Algahtani, Raghad, Naseer, Muhammad Imran, Al-Qahtani, Mohammad H., Abdulkareem, Angham Abdulrahman
Formato: Artigo
Idioma:Inglês
Publicado em: International Research and Cooperation Association for Bio & Socio-Sciences Advancement 2018
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6290838/
https://ncbi.nlm.nih.gov/pubmed/30560021
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5582/irdr.2018.01107
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados