Germline mosaicism for the c.2021G > A (p.Arg674Gln) mutation in siblings with trismus pseudocamptodactyly

Am J Med Genet A. 2010 Nov;152A(11):2898-900. doi: 10.1002/ajmg.a.33671.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Adult
  • Amino Acid Substitution / genetics*
  • Arthrogryposis / genetics
  • Base Sequence
  • DNA Mutational Analysis
  • Family
  • Female
  • Germ-Line Mutation / genetics*
  • Humans
  • Male
  • Molecular Sequence Data
  • Mosaicism*
  • Myosin Heavy Chains / genetics
  • Pedigree
  • Siblings*
  • Trismus / genetics
  • Young Adult

Substances

  • MYH8 protein, human
  • Myosin Heavy Chains

Supplementary concepts

  • Hecht syndrome