Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2

BACKGROUND: The autosomal recessively inherited ataxia with oculomotor apraxia 2 (AOA2) is a neurodegenerative disorder characterized by juvenile or adolescent age of onset, gait ataxia, cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia, and elevated serum AFP levels. AOA2 is ca...

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Detalles Bibliográficos
Autores principales: Bernard, Veronica, Minnerop, Martina, Bürk, Katrin, Kreuz, Friedmar, Gillessen-Kaesbach, Gabriele, Zühlke, Christine
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2749023/
https://www.ncbi.nlm.nih.gov/pubmed/19744353
http://dx.doi.org/10.1186/1471-2350-10-87

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2749023/
https://www.ncbi.nlm.nih.gov/pubmed/19744353
http://dx.doi.org/10.1186/1471-2350-10-87

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