Dystrophin associated glycoprotein myopathy mimicking X-linked inheritance

L. Politano, S. Tedeschi, V. Nigro, S. Papparella, B. Restucci, M. G. Esposito, L. Passamano, M. A M Giugliano, L. I. Comi, G. Nigro

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

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.

Original languageEnglish
Title of host publicationActa Cardiomiologica
Pages35-42
Number of pages8
Volume7
Edition1
Publication statusPublished - 1995

Keywords

  • DAG
  • dystrophin glycoprotein complex
  • pathies

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Clinical Neurology

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    Politano, L., Tedeschi, S., Nigro, V., Papparella, S., Restucci, B., Esposito, M. G., Passamano, L., Giugliano, M. A. M., Comi, L. I., & Nigro, G. (1995). Dystrophin associated glycoprotein myopathy mimicking X-linked inheritance. In Acta Cardiomiologica (1 ed., Vol. 7, pp. 35-42)