ITPR1 gene p.Val1553Met mutation in Russian family with mild Spinocerebellar ataxia
2016
Background
Spinocerebellar ataxias (SСAs) are a highly heterogeneous group of inherited neurological disorders. The symptoms of ataxia vary in individual patients and even within the same SCA subtype. A study of a four-generation family with autosomal dominant (AD) non-progressive SCA with mild symptoms was conducted. The genotyping of this family revealed no frequent pathogenic mutations. So the objective of this study was to identify the genetic causes of the disease in this family with the technology of whole-exome sequencing (WES).
Keywords:
- Correction
- Source
- Cite
- Save
- Machine Reading By IdeaReader
22
References
17
Citations
NaN
KQI