eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | infantile onset spinocerebellar ataxia |
| Comorbidity | C0152025|polyneuropathy |
| Sentences | 1 |
| PubMedID- 24816431 | In conclusion, we identified novel compound heterozygous mutations c.1460c>t (p.t487i) and c.1485-1g>a in c10orf2 as the underlying cause of iosca combined with sensorimotor polyneuropathy and myopathy. |
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