Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome

Date
2014
Author
DOWLING, James J.
BURMEISTER, Margit
LI, Jun Z.
PENG, Weiping
Yapici, Zühal
XU, Jishu
MAJCZENKO, Karen
BURNS, Randi
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Abstract
Objective: To elucidate the genetic cause of a rare recessive ataxia presented by 2 siblings from a consanguineous Turkish family with a nonprogressive, congenital ataxia with mental retardation of unknown etiology.
URI
http://hdl.handle.net/20.500.12627/18725
https://doi.org/10.1212/wnl.0000000000001053
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