Identification of a novel mutation in the CACNA1C gene in a Chinese family with autosomal dominant cerebellar ataxia

BACKGROUND: Hereditary ataxia is a group of neurodegenerative diseases with progressive cerebellar ataxia of the gait and limbs as the main symptoms. The genetic patterns of the disease are diverse but it is mainly divided into autosomal dominant cerebellar ataxia (ADCA) and autosomal recessive cere...

Descripción completa

Detalles Bibliográficos
Autores principales: Chen, Jiajun, Sun, Yajuan, Liu, Xiaoyang, Li, Jia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6617910/
https://www.ncbi.nlm.nih.gov/pubmed/31291898
http://dx.doi.org/10.1186/s12883-019-1381-8

Ejemplares similares

Ejemplares similares