Pathological changes in cardiac muscle and cerebellar cortex in Vici syndrome

Am J Med Genet A. 2014 Dec;164A(12):3203-5. doi: 10.1002/ajmg.a.36753. Epub 2014 Sep 24.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Agenesis of Corpus Callosum / genetics
  • Agenesis of Corpus Callosum / pathology*
  • Autophagy / physiology
  • Autophagy-Related Proteins
  • Cataract / genetics
  • Cataract / pathology*
  • Cerebellar Cortex / pathology*
  • Fatal Outcome
  • Humans
  • Immunohistochemistry
  • Infant
  • Lysosomal Membrane Proteins
  • Male
  • Myocardium / pathology*
  • Proteins / genetics*
  • Vesicular Transport Proteins

Substances

  • Autophagy-Related Proteins
  • EPG5 protein, human
  • Lysosomal Membrane Proteins
  • Proteins
  • Vesicular Transport Proteins

Supplementary concepts

  • Absent corpus callosum cataract immunodeficiency