A case of Duchenne muscular dystrophy with truncated dystrophin
- 1 May 1993
- journal article
- case report
- Published by Elsevier in Brain & Development
- Vol. 15 (3), 222-225
- https://doi.org/10.1016/0387-7604(93)90069-k
Abstract
No abstract availableKeywords
Funding Information
- Ministry of Health, Labour and Welfare
- Ono Medical Research Foundation
- Uehara Memorial Foundation
- Ministry of Education, Culture, Sports, Science and Technology
This publication has 12 references indexed in Scilit:
- An intact cysteine-rich domain is required for dystrophin function.Journal of Clinical Investigation, 1992
- Human and murine dystrophin mRNA transcripts are differentially expressed during skeletal muscle, heart, and brain developmentNucleic Acids Research, 1992
- Is the carboxyl‐terminus of dystrophin required for membrane association? A novel, severe case of duchenne muscular dystrophyAnnals of Neurology, 1991
- Membrane organization of the dystrophin-glycoprotein complexCell, 1991
- Preservation of the C-terminus of dystrophin molecule in the skeletal muscle from Becker muscular dystrophyJournal of the Neurological Sciences, 1991
- Detection of dystrophin on two-dimensional gel electrophoresisBiochemical and Biophysical Research Communications, 1989
- Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminusNature, 1989
- Characterization of Dystrophin in Muscle-Biopsy Specimens from Patients with Duchenne's or Becker's Muscular DystrophyNew England Journal of Medicine, 1988
- The complete sequence of dystrophin predicts a rod-shaped cytoskeletal proteinCell, 1988
- An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locusGenomics, 1988