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

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 of CAPN1...

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Detalles Bibliográficos
Autores principales: Lai, Lu‐Lu, Chen, Yi‐Jun, Li, Yun‐Lu, Lin, Xiao‐Hong, Wang, Meng‐Wen, Dong, En‐Lin, Wang, Ning, Chen, Wan‐Jin, Lin, Xiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7545613/
https://www.ncbi.nlm.nih.gov/pubmed/32860341
http://dx.doi.org/10.1002/acn3.51169

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7545613/
https://www.ncbi.nlm.nih.gov/pubmed/32860341
http://dx.doi.org/10.1002/acn3.51169

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