Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit

Ataxia with oculomotor apraxia type 1 (AOA1) is a recently described autosomal-recessive neurodegenerative condition of childhood onset. It is caused by mutations in the APTX gene, which encodes the protein aprataxin. Clinical features include gait and limb ataxia, dysarthria, oculomotor apraxia, mi...

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Autori principali: Yoon, Grace, Westmacott, Robyn, MacMillan, Lynn, Quercia, Nada, Koutsou, Pantelitsa, Georghiou, Anthi, Christodoulou, Kyproula, Banwell, Brenda
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Publishing Group 2009
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3029461/
https://ncbi.nlm.nih.gov/pubmed/21686683
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr.08.2008.0688
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