A case of a novel CACNA1G mutation from a Chinese family with SCA42: A case report and literature review

RATIONALE: Spinocerebellar ataxia (SCA), a genetically inherited heterogeneous disorder, is characterized by gait ataxia, dysarthria, parkinsonism, choreic movements, dystonia, epilepsy, cognitive and psychiatric symptoms. Spinocerebellar ataxia-42 (SCA42), caused by heterozygous mutation in the cal...

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Detalles Bibliográficos
Autores principales: Li, Xinyuan, Zhou, Chunkui, Cui, Li, Zhu, Lijun, Du, Heqian, Liu, Jing, Wang, Chenglin, Fang, Shaokuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6133555/
https://www.ncbi.nlm.nih.gov/pubmed/30200108
http://dx.doi.org/10.1097/MD.0000000000012148

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6133555/
https://www.ncbi.nlm.nih.gov/pubmed/30200108
http://dx.doi.org/10.1097/MD.0000000000012148

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