Novel SACS Mutations Identified by Whole Exome Sequencing in a Norwegian Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Novel SACS Mutations Identified by Whole Exome Sequencing in a Norwegian Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

We employed whole exome sequencing to investigate three Norwegian siblings with an autosomal recessive spastic ataxia and epilepsy. All patients were compound heterozygous (c.13352T>C, p.Leu4451Pro; c.6890T>G, p.Leu2297Trp) for mutations in the SACS gene establishing the diagnosis of autosomal...

Full description

Bibliographic Details
Main Authors: Tzoulis, Charalampos, Johansson, Stefan, Haukanes, Bjørn Ivar, Boman, Helge, Knappskog, Per Morten, Bindoff, Laurence A.
Format: Online
Language:English
Published: Public Library of Science 2013
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3681964/

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3681964/

Similar Items