Loading...
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...
Saved in:
| Published in: | Cerebellum Ataxias |
|---|---|
| Main Authors: | , , |
| Format: | Artigo |
| Language: | Inglês |
| Published: |
BioMed Central
2015
|
| Subjects: | |
| Online Access: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4552145/ https://ncbi.nlm.nih.gov/pubmed/26331048 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40673-015-0024-0 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|