First case of compound heterozygosity in ALS2 gene in infantile-onset ascending spastic paralysis with bulbar involvement

Clin Genet. 2008 Jun;73(6):591-3. doi: 10.1111/j.1399-0004.2008.00993.x. Epub 2008 Apr 2.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Female
  • Guanine Nucleotide Exchange Factors / genetics*
  • Heterozygote
  • Humans
  • Infant, Newborn
  • Muscle Spasticity / genetics*
  • Paralysis / genetics*

Substances

  • ALS2 protein, human
  • Guanine Nucleotide Exchange Factors