Pseudodominant AOA2

We report a mother and daughter with autosomal recessive ataxia with occulomotor apraxia in whom sequence analysis of senataxin revealed a dignosis of AOA2 (ataxia with occulomotor apraxia type 2) in both individuals. The apparent dominant inheritance pattern (pseudodominant) was the result of the u...

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Detalles Bibliográficos
Autores principales: Newrick, Laurence, Taylor, Malcolm, Hadjivassiliou, Marios
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4552145/
https://www.ncbi.nlm.nih.gov/pubmed/26331048
http://dx.doi.org/10.1186/s40673-015-0024-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4552145/
https://www.ncbi.nlm.nih.gov/pubmed/26331048
http://dx.doi.org/10.1186/s40673-015-0024-0

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