The gene for a novel glycosyltransferase is mutated in congenital muscular dystrophy MDC1C and limb girdle muscular dystrophy 2I

Neuromuscul Disord. 2002 Mar;12(3):233-4. doi: 10.1016/s0960-8966(01)00325-x.
No abstract available

Publication types

  • Editorial
  • Review

MeSH terms

  • Glycosyltransferases / genetics*
  • Humans
  • Muscular Dystrophies / congenital*
  • Muscular Dystrophies / genetics*
  • Mutation
  • Pentosyltransferases
  • Proteins / genetics*

Substances

  • Proteins
  • Glycosyltransferases
  • FKRP protein, human
  • Pentosyltransferases