Ptosis as a feature of late-onset glycogenosis type II

Neurology. 2007 Jul 3;69(1):116; author reply 116. doi: 10.1212/01.wnl.0000270101.95790.fb.
No abstract available

Publication types

  • Case Reports
  • Comment
  • Letter

MeSH terms

  • Blepharoptosis / etiology*
  • Fatigue / etiology
  • Female
  • Glucan 1,4-alpha-Glucosidase / deficiency
  • Glucan 1,4-alpha-Glucosidase / genetics
  • Glycogen Storage Disease Type II / complications*
  • Heterozygote
  • Humans
  • Introns / genetics
  • Middle Aged
  • Muscle Weakness / etiology
  • Point Mutation
  • Sequence Deletion

Substances

  • Glucan 1,4-alpha-Glucosidase