Dystrophin, the protein product of the Duchenne muscular dystrophy gene (DMD) is associated with a large oligomeric complex of sarcolemmal glycoproteins which provides a linkage to the extracellular matrix component, laminin. In patients with DMD the absence of dystrophin leads to the loss in all of the dystrophin associated proteins (DAPs), causing the disruption of the linkage between the subsarcolemmal cytoskeleton and the extracellular matrix. At the time no case has been reported in which an abnormal expression of the DAPs can influence the expression of dystrophin at the sarcolemmal level. We report a family in which an abnormal expression of dystrophin glycoprotein complex mimics an immunohistological dystrophinopathic pattern and X-linked inheritance.
|Title of host publication||Acta Cardiomiologica|
|Number of pages||8|
|Publication status||Published - 1995|
- dystrophin glycoprotein complex
ASJC Scopus subject areas
- Cardiology and Cardiovascular Medicine
- Clinical Neurology