Novel CAPN1 mutations extend the phenotypic heterogeneity in combined spastic paraplegia and ataxia
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|