Novel CAPN1 mutations extend the phenotypic heterogeneity in combined spastic paraplegia and ataxia
Abstract Objective Recessive mutations in the CAPN1 gene have recently been identified in spastic paraplegia 76 (SPG76), a complex hereditary spastic paraplegia (HSP) that is combined with cerebellar ataxia, resulting in an ataxia‐spasticity disease spectrum. This study aims to assess the influence...
| Main Authors: | , , , , , , , , |
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| פורמט: | Article |
| שפה: | English |
| יצא לאור: |
Wiley
2020-10-01
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| סדרה: | Annals of Clinical and Translational Neurology |
| גישה מקוונת: | https://doi.org/10.1002/acn3.51169 |