Infantile autophagic vacuolar myopathy is distinct from Danon disease

Neurology. 2001 Sep 11;57(5):903-5. doi: 10.1212/wnl.57.5.903.

Abstract

Lysosomal glycogen storage disease with normal acid maltase (Danon) is caused by primary lysosome-associated membrane protein-2 (LAMP-2) deficiency. Typically, the disease begins after the first decade; however, two infantile patients had similar histologic features. The infantile disorder is distinct from Danon disease, because, in both infants, LAMP-2 protein is present in skeletal muscle. Deposition of C5b-9 and multilayered basal lamina in one patient suggest that the infantile disease is pathogenically similar to X-linked myopathy with excessive autophagy.

Publication types

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

MeSH terms

  • Antigens, CD / metabolism
  • Child, Preschool
  • Diagnosis, Differential
  • Female
  • Humans
  • Infant, Newborn
  • Lysosomal Membrane Proteins
  • Lysosomal Storage Diseases / metabolism
  • Lysosomal Storage Diseases / pathology*
  • Male
  • Membrane Glycoproteins / metabolism
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology*
  • Muscular Diseases / metabolism
  • Muscular Diseases / pathology*

Substances

  • Antigens, CD
  • Lysosomal Membrane Proteins
  • Membrane Glycoproteins