Filtered By:
Condition: Ataxia
Countries: Peru Health
This page shows you your search results in order of date.
Order by Relevance | Date
Total 1 results found since Jan 2013.
A Novel Variant in Non-coding Region of GJB1 Is Associated With X-Linked Charcot-Marie-Tooth Disease Type 1 and Transient CNS Symptoms
Conclusion
A novel GJB1 variant of c.-170T>G in non-coding region was found in this big Chinese CMTX1 pedigree. This is the first report of variant in non-coding DNA sequence associated with transient CNS symptoms. Thyroid malfunction may contribute to the CNS symptoms in this case.
Ethics Statement
This study has been reviewed and approved by the Ethics Committee of the China-Japan Union Hospital of Jilin University. Each member of the family provided written informed consent to the participation in the study, the genetic test, and authorized to publish the study including the photos in accordance with the Decl...
Source: Frontiers in Neurology - April 23, 2019 Category: Neurology Source Type: research
