Exome sequencing as a diagnostic tool to identify a causal mutation in genetically highly heterogeneous limb-girdle muscular dystrophy

J Hum Genet. 2013 Aug;58(8):564-5. doi: 10.1038/jhg.2013.33. Epub 2013 May 16.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Base Sequence
  • Calpain / genetics
  • DNA Mutational Analysis / methods*
  • Exome / genetics*
  • Exons / genetics
  • Female
  • Genetic Heterogeneity*
  • Homozygote
  • Humans
  • Molecular Sequence Data
  • Muscle Proteins / genetics
  • Muscular Dystrophies, Limb-Girdle / genetics*
  • Mutation / genetics*
  • Young Adult

Substances

  • Muscle Proteins
  • CAPN3 protein, human
  • Calpain