Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations
Article first published online: 31 JAN 2011
© 2011 John Wiley & Sons A/S
Volume 81, Issue 2, pages 150–157, February 2012
How to Cite
Arnoldi, A., Crimella, C., Tenderini, E., Martinuzzi, A., D'Angelo, M., Musumeci, O., Toscano, A., Scarlato, M., Fantin, M., Bresolin, N. and Bassi, M. (2012), Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations. Clinical Genetics, 81: 150–157. doi: 10.1111/j.1399-0004.2011.01624.x
- Issue published online: 12 JAN 2012
- Article first published online: 31 JAN 2011
- Accepted manuscript online: 10 JAN 2011 06:51AM EST
- Received 24 September 2010, revised and accepted for publication 22 December 2010
The following Supporting information is available for this article:
Fig. S1. Brain magnetic resonance imaging (MRI) data from CYP7B1-mutated patients (upper panel a, b). T2-weighted images showing slight diffuse hyperintensity of the cerebral deep white matter in the two sisters from family P4505 (lower panel c, d). T2-weighted images showing periventricular white matter lesions and cerebral atrophy in patient P13610.
Table S1. Summary of the clinical features of the patients cohort tested for CYP7B1 mutations.
Additional Supporting information may be found in the online version of this article.
|CGE_1624_sm_fS1_tS1.doc||1286K||Supporting info item|
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