A large family with MYH9 disorder caused by E1841K mutation suffering from serious kidney and hearing impairment and cataracts

Ann Hematol. 2012 Jul;91(7):1147-8. doi: 10.1007/s00277-011-1370-5. Epub 2011 Nov 15.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Amino Acid Substitution / genetics
  • Amino Acid Substitution / physiology
  • Cataract / complications
  • Cataract / genetics*
  • Family Characteristics
  • Glutamic Acid / genetics
  • Hearing Loss / complications
  • Hearing Loss / genetics*
  • Humans
  • Kidney Diseases / complications
  • Kidney Diseases / genetics*
  • Lysine / genetics
  • Male
  • Middle Aged
  • Molecular Motor Proteins / genetics*
  • Mutation, Missense* / physiology
  • Myosin Heavy Chains / genetics*
  • Pedigree
  • Severity of Illness Index

Substances

  • MYH9 protein, human
  • Molecular Motor Proteins
  • Glutamic Acid
  • Myosin Heavy Chains
  • Lysine