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Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish family.
| Content Provider | Paperity |
|---|---|
| Author | Baumann, P. Penttilä, S. Kärppä, M. Moilanen, J. Palmio, J. Udd, B. |
| Abstract | Autosomal recessive spastic ataxia of Charlevoix�Saguenay is a rare disorder outside Quebec causing childhood�onset cerebellar ataxia, peripheral neuropathy, and pyramidal tract signs. A Finnish family with milder form of was found to ... |
| Starting Page | 1151 |
| File Format | HTM / HTML |
| DOI | 10.1002/ccr3.722 |
| Issue Number | 12 |
| Journal | Clinical Case Reports |
| Volume Number | 4 |
| e-ISSN | 20500904 |
| Language | English |
| Publisher | Wiley |
| Publisher Date | 2016-12-01 |
| Access Restriction | Open |
| Content Type | Text |
| Resource Type | Article |