A novel ALG14 missense variant in an alive child with myopathy, epilepsy, and progressive cerebral atrophy

Am J Med Genet A. 2021 Jun;185(6):1918-1921. doi: 10.1002/ajmg.a.62153. Epub 2021 Mar 10.
No abstract available

Publication types

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

MeSH terms

  • Atrophy / genetics*
  • Atrophy / pathology
  • Child
  • Epilepsy / genetics*
  • Epilepsy / pathology
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Muscular Diseases / genetics*
  • Muscular Diseases / pathology
  • Mutation, Missense / genetics
  • N-Acetylglucosaminyltransferases / genetics*

Substances

  • N-Acetylglucosaminyltransferases
  • UDP-N-acetylglucosamine transferase