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The Clinical Spectrum of Ataxia with Oculomotor Apraxia Type 2
Ataxia with oculomotor apraxia type 2 (AOA2) is an inherited disorder caused by mutations within both alleles of the senataxin gene. First symptoms are usually recognized before the age of 30. Unlike several other autosomal recessive cerebellar ataxia syndromes, levels of alpha‐fetoprotein are nearl...
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| Vydáno v: | Mov Disord Clin Pract |
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| Hlavní autoři: | , , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
John Wiley and Sons Inc.
2014
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6183195/ https://ncbi.nlm.nih.gov/pubmed/30363866 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mdc3.12021 |
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