An intronic mutation causes severe LGMD2A in a large inbred family belonging to a genetic isolate in the Alps

Clin Genet. 2012 Dec;82(6):601-2. doi: 10.1111/j.1399-0004.2012.01873.x. Epub 2012 Apr 9.
No abstract available

Publication types

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

MeSH terms

  • Base Sequence
  • Calpain / genetics*
  • Consanguinity*
  • Humans
  • Introns / genetics*
  • Italy / epidemiology
  • Molecular Sequence Data
  • Muscle Proteins / genetics*
  • Muscular Dystrophies, Limb-Girdle / epidemiology*
  • Muscular Dystrophies, Limb-Girdle / genetics*
  • Mutation / genetics*
  • Pedigree
  • Sequence Analysis, DNA

Substances

  • Muscle Proteins
  • CAPN3 protein, human
  • Calpain