Mosaic expression of two dystrophins in a boy with progressive muscular dystrophy

Muscle Nerve. 1998 Oct;21(10):1317-20. doi: 10.1002/(sici)1097-4598(199810)21:10<1317::aid-mus11>3.0.co;2-z.

Abstract

A boy with a Becker muscular dystrophy (BMD) phenotype presented unique muscular dystrophin expression. Western blot analysis showed the presence of two dystrophins of different sizes, i.e., a 400-kDa dystrophin and a 500-kDa form. An immunofluorescent study revealed mosaic expression of these dystrophins in the sarcolemma, with matching alpha-sarcoglycan and beta-dystroglycan staining patterns. DNA and RNA analysis did not reveal any mutation in the dystrophin gene, and the karyotype was normal.

Publication types

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

MeSH terms

  • Antibodies, Monoclonal / immunology
  • Blotting, Western
  • Child, Preschool
  • Cytoskeletal Proteins / metabolism
  • Disease Progression
  • Dystroglycans
  • Dystrophin / chemistry
  • Dystrophin / immunology
  • Dystrophin / metabolism*
  • Fluorescent Antibody Technique
  • Humans
  • Male
  • Membrane Glycoproteins / metabolism
  • Molecular Weight
  • Mosaicism / physiopathology*
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / metabolism*
  • Muscular Dystrophies / physiopathology
  • Reference Values
  • Sarcoglycans
  • Sarcolemma / metabolism

Substances

  • Antibodies, Monoclonal
  • Cytoskeletal Proteins
  • DAG1 protein, human
  • Dystrophin
  • Membrane Glycoproteins
  • Sarcoglycans
  • Dystroglycans