eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | dystonia |
| Comorbidity | C0029089|ophthalmoplegia |
| Sentences | 1 |
| PubMedID- 25633985 | Atxn3 is a polyglutamine (polyq)-containing protein that carries 14–41 polyq repeats in the normal population; when the polyq length expands beyond 60, it causes spinocerebellar ataxia type 3 (sca3; omim:109150), also known as machado-joseph disease (mjd), a hereditary neurodegenerative disorder characterized by gait ataxia, dysarthria and ophthalmoplegia, variably associated with spasticity, dystonia or amyotrophy and peripheral neuropathy [23]. |
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