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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2015
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| 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 |