A novel CPT1C variant causes pure hereditary spastic paraplegia with benign clinical course

Hereditary spastic paraplegia 73 (SPG73) was currently identified in only one family with variant in the neuronal isoform of carnitine palmitoyl‐transferase 1C (CPT1C) gene. We described a new family, in which affected individuals exhibited pure hereditary spastic paraplegia with benign clinical cou...

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Detalles Bibliográficos
Autores principales: Hong, Daojun, Cong, Lu, Zhong, Shanshan, Liu, Ling, Xu, Yan, Zhang, Jun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Brief Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6414484/
https://www.ncbi.nlm.nih.gov/pubmed/30911584
http://dx.doi.org/10.1002/acn3.717

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