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...

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Dettagli Bibliografici
Pubblicato in:Intractable Rare Dis Res
Autori principali: Algahtani, Hussein, Shirah, Bader, Algahtani, Raghad, Naseer, Muhammad Imran, Al-Qahtani, Mohammad H., Abdulkareem, Angham Abdulrahman
Natura: Artigo
Lingua:Inglês
Pubblicazione: International Research and Cooperation Association for Bio & Socio-Sciences Advancement 2018
Soggetti:
Case Report
Accesso online: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
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