POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease

J Med Genet. 2004 Oct;41(10):e115. doi: 10.1136/jmg.2004.020701.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Abnormalities, Multiple / physiopathology*
  • Adolescent
  • Adult
  • Brain / abnormalities*
  • Brain / physiopathology
  • Child
  • Child, Preschool
  • DNA Mutational Analysis
  • Exons / genetics
  • Eye Abnormalities / genetics*
  • Eye Abnormalities / physiopathology
  • Female
  • Finland
  • Founder Effect
  • Haplotypes / genetics
  • Humans
  • Infant
  • Infant, Newborn
  • Introns / genetics
  • Male
  • Muscular Dystrophies / congenital
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / physiopathology
  • Mutation / genetics*
  • N-Acetylglucosaminyltransferases / genetics*
  • Phenotype
  • Polymorphism, Single Nucleotide / genetics

Substances

  • N-Acetylglucosaminyltransferases
  • protein O-mannose beta-1,2-N-acetylglucosaminyltransferase

Associated data

  • OMIM/236670
  • OMIM/253280
  • OMIM/253800