Dystrophin analysis in Duchenne and Becker muscular dystrophy carriers: Correlation with intracellular calcium and albumin

L. Morandi, M. Mora, E. Gussoni, S. Tedeschi, F. Cornelio

Research output: Contribution to journalArticle

38 Citations (Scopus)

Abstract

Immunocytochemical localization and immunoblot analysis of dystrophin in muscle fibers of 11 obligate and probable, and 7 possible carriers of Duchenne and Becker muscular dystrophy revealed an abnormal expression of the protein in 3 of them. Localization of calcium and albumin, as endogenous markers of extracellular fluid penetration, showed the presence of both molecules inside some fibers lacking dystrophin. Our morphological studies show that the initial stages leading to fiber necrosis in Duchenne muscular dystrophy are present in carriers with mosaicism. Comparison of dystrophin studies with restriction fragment length polymorphism analysis and creatine kinase levels showed that neither immunocytochemical nor immunoblot techniques for dystrophin are sensitive enough to provide a basis for genetic counseling.

Original languageEnglish
Pages (from-to)674-679
Number of pages6
JournalAnnals of Neurology
Volume28
Issue number5
Publication statusPublished - 1990

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Dystrophin
Duchenne Muscular Dystrophy
Albumins
Calcium
Mosaicism
Extracellular Fluid
Genetic Counseling
Creatine Kinase
Restriction Fragment Length Polymorphisms
Necrosis
Muscles
Proteins

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Dystrophin analysis in Duchenne and Becker muscular dystrophy carriers : Correlation with intracellular calcium and albumin. / Morandi, L.; Mora, M.; Gussoni, E.; Tedeschi, S.; Cornelio, F.

In: Annals of Neurology, Vol. 28, No. 5, 1990, p. 674-679.

Research output: Contribution to journalArticle

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