A founder mutation MLC1 c.736delA associated with megalencephalic leukoencephalopathy with subcortical cysts-1 in north Indian kindred

Clin Genet. 2018 Aug;94(2):271-273. doi: 10.1111/cge.13251. Epub 2018 Apr 18.
No abstract available

Publication types

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

MeSH terms

  • Brain / diagnostic imaging
  • Brain / physiopathology*
  • Cysts / diagnostic imaging
  • Cysts / genetics*
  • Cysts / physiopathology
  • Female
  • Founder Effect*
  • Hereditary Central Nervous System Demyelinating Diseases / diagnostic imaging
  • Hereditary Central Nervous System Demyelinating Diseases / genetics*
  • Hereditary Central Nervous System Demyelinating Diseases / physiopathology
  • Humans
  • India
  • Male
  • Membrane Proteins / genetics*
  • Mutation / genetics
  • Pedigree
  • Sequence Analysis, DNA

Substances

  • MLC1 protein, human
  • Membrane Proteins

Supplementary concepts

  • Megalencephalic leukoencephalopathy with subcortical cysts