550delA mutation in the calpain 3 (CAPN3) gene: DMD/BMD, SMA, or LGMD2A--clinically misdiagnosed cases

Am J Med Genet A. 2005 Aug 1;136A(4):399-400. doi: 10.1002/ajmg.a.30809.
No abstract available

Publication types

  • Comparative Study
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Calpain / genetics*
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Female
  • Gene Frequency
  • Genetic Testing
  • Humans
  • Isoenzymes / genetics*
  • Male
  • Muscle Proteins / genetics*
  • Muscular Atrophy, Spinal / diagnosis
  • Muscular Atrophy, Spinal / genetics
  • Muscular Dystrophies, Limb-Girdle / diagnosis
  • Muscular Dystrophies, Limb-Girdle / genetics
  • Muscular Dystrophy, Duchenne / diagnosis
  • Muscular Dystrophy, Duchenne / genetics
  • Mutation*
  • Mutation, Missense
  • Polymorphism, Genetic
  • Sequence Deletion

Substances

  • Isoenzymes
  • Muscle Proteins
  • CAPN3 protein, human
  • Calpain