A severe muscular dystrophy patient with an internally deleted very short (110 kD) Dystrophin: Presence of the binding site for dystrophin-associated glycoprotein (DAG) may not be enough for physiological function of dystrophin
- 30 September 1995
- journal article
- case report
- Published by Elsevier in Neuromuscular Disorders
- Vol. 5 (5) , 429-438
- https://doi.org/10.1016/0960-8966(94)00087-p
Abstract
No abstract availableKeywords
Funding Information
- Ministry of Health, Labour and Welfare
- Charles H. Hood Foundation
- Ministry of Education, Culture, Sports, Science and Technology
This publication has 46 references indexed in Scilit:
- Linkage of Tunisian autosomal recessive Duchenne–like muscular dystrophy to the pericentromeric region of chromosome 13qNature Genetics, 1992
- Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophyNature, 1992
- Phenotypic Duchenne muscular dystrophy with C-terminal domainPediatric Neurology, 1992
- Glycoprotein‐binding site of dystrophin is confined to the cysteine‐rich domain and the first half of the carboxy‐terminal domainFEBS Letters, 1992
- Expression of the N‐terminal domain of dystrophin in E. coli and demonstration of binding to F‐actinFEBS Letters, 1992
- Binding sites involved in the interaction of actin with the N‐terminal region of dystrophinFEBS Letters, 1992
- Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrixNature, 1992
- Dystrophin-related protein in the fetal and denervated skeletal muscles of normal and mdx miceBiochemical and Biophysical Research Communications, 1991
- Characterization of Dystrophin in Muscle-Biopsy Specimens from Patients with Duchenne's or Becker's Muscular DystrophyNew England Journal of Medicine, 1988
- Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individualsCell, 1987