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...
| Main Authors: | , , |
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| Format: | Online |
| Language: | English |
| Published: |
BioMed Central
2015
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4552145/ |