Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1

BACKGROUND: Ataxia with oculomotor apraxia type 1 is an autosomal-recessive neurodegenerative disorder characterized by a childhood onset of slowly progressive cerebellar ataxia, followed by oculomotor apraxia and a severe primary motor peripheral axonal motor neuropathy. Ataxia with oculomotor apra...

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Publicado en:BMC Med Genet
Autores principales: van Minkelen, Rick, Guitart, Miriam, Escofet, Conxita, Yoon, Grace, Elfferich, Peter, Bolman, Galhana M., van der Helm, Robert, van de Graaf, Raoul, van den Ouweland, Ans M.W.
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4593195/
https://ncbi.nlm.nih.gov/pubmed/26285866
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-015-0213-y
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