Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish family

Johanna Palmio, Mikko Kärppä, Peter Baumann, Sini Penttilä, Jukka Moilanen, Bjarne Udd

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
Pages (from-to)1151-1156
JournalClinical Case Reports
Volume4
Issue number12
DOIs
Publication statusPublished - 2016
Publication typeA1 Journal article-refereed

Keywords

  • SACS gene
  • autosomal recessive
  • spastic ataxia

Publication forum classification

  • Publication forum level 0

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