Frequency of the FKRP mutation c.826C>A in isolated hyperCKemia and in limb girdle muscular dystrophy type 2 in German patients

J Neurol. 2010 Feb;257(2):300-1. doi: 10.1007/s00415-009-5349-2. Epub 2009 Oct 10.
No abstract available

Publication types

  • Letter

MeSH terms

  • Adolescent
  • Adult
  • Creatine Kinase* / blood
  • DNA Mutational Analysis
  • Genotype
  • Germany
  • Humans
  • Incidence
  • Metabolic Diseases / epidemiology
  • Metabolic Diseases / genetics*
  • Muscular Dystrophies, Limb-Girdle / epidemiology
  • Muscular Dystrophies, Limb-Girdle / genetics*
  • Mutation, Missense*
  • Pentosyltransferases
  • Phenotype
  • Proteins / genetics*
  • Young Adult

Substances

  • Proteins
  • FKRP protein, human
  • Pentosyltransferases
  • Creatine Kinase