Novel CAPN1 mutations extend the phenotypic heterogeneity in combined spastic paraplegia and ataxia
Summary
Our study supports the clinically heterogeneous inter- and intra-family variability of SPG76 patients, and demonstrates that gender and calpain-1 linker structure may contribute to clinical heterogeneity in SPG76 cases. © 2020 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association.
| Authors | Lai LL, Chen YJ, Li YL, Lin XH, Wang MW, Dong EL, Wang N, Chen WJ, Lin X |
|---|---|
| Journal | Annals of clinical and translational neurology |
| Publication Date | 2020 Oct;7(10):1862-1869 |
| PubMed | 32860341 |
| PubMed Central | PMC7545613 |
| DOI | 10.1002/acn3.51169 |