Autosomal recessive spastic ataxia of Charlevoix-Saguenay: Compound heterozygotes for nonsense mutations of the SACS gene

Vinodh Narayanan, Stephen G. Rice, Shannon S. Olfers, Kumaraswamy Sivakumar

Research output: Contribution to journalArticlepeer-review

Original languageEnglish
Pages (from-to)1585-1589
Number of pages5
JournalJournal of Child Neurology
Volume26
Issue number12
DOIs
StatePublished - Dec 2011
Externally publishedYes

ASJC Scopus Subject Areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

Keywords

  • ataxia
  • cerebellar vermis atrophy
  • Charlevoix-Saguenay
  • myelinated retinal nerve fibers
  • recessive

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