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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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2019
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Materias: | |
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 |