eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | spinocerebellar ataxia 2 |
| Comorbidity | C0005745|ptosis |
| Sentences | 1 |
| PubMedID- 24814845 | Objective: to identify the genetic cause of autosomal dominant spinocerebellar ataxia type 28 (sca28) with ptosis in 2 belgian families without afg3l2 point mutations and further extend the clinical spectrum of sca28 through the study of a brain autopsy, advanced mri, and cell-based functional assays exploring the underlying disease mechanism. |
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