A case of Duchenne muscular dystrophy with truncated dystrophin. Significance of a cysteine-rich domain for functional expression of dystrophin protein

Brain Dev. 1993 May-Jun;15(3):222-5. doi: 10.1016/0387-7604(93)90069-k.

Abstract

A Duchenne muscular dystrophy case showed truncated dystrophin (320 kDa) with an isoelectric point slightly shifted towards a more alkaline pH. From the polymerase chain reaction and immunochemical analysis data, the expressed dystrophin protein was predicted to lack the portion comprising the tail of the rod-like domain, the cysteine-rich domain, and the head of the C-terminal domain. These results indicated the functional importance of the cysteine-rich domain in the dystrophin protein.

Publication types

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

MeSH terms

  • Adolescent
  • Cysteine*
  • DNA / chemistry
  • Dystrophin / analysis
  • Dystrophin / genetics*
  • Gene Deletion*
  • Humans
  • Immunohistochemistry
  • Leukocytes
  • Male
  • Muscular Dystrophies / genetics*
  • Polymerase Chain Reaction

Substances

  • Dystrophin
  • DNA
  • Cysteine