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
PubMed 32860341
PubMed Central PMC7545613
DOI 10.1002/acn3.51169

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