Duchenne muscular dystrophy in a girl identified by dystrophin deficiency

J. Maytal, A. L. Shanske, J. E. Fox, S. Lipper, L. Eviatar

Research output: Contribution to journalArticlepeer-review

5 Scopus citations

Abstract

We report an isolated case of a girl aged three years six months with Duchenne muscular dystrophy. Analysis of the patient's DNA with a probe covering the DNA gene revealed no deletion. Dystrophin, studied in biopsied muscle from the patient, using antidystrophin antibody in combination with immunofluorescence, was nearly completely absent. In this sporadic case of female muscular dystrophy, the identification of dystrophin-deficient muscle fibers made it possible to establish an accurate diagnosis of DMD affected female.

Original languageEnglish
Pages (from-to)163-165
Number of pages3
JournalNeuropediatrics
Volume22
Issue number3
DOIs
StatePublished - 1991
Externally publishedYes

Keywords

  • Duchenne muscular dystrophy
  • dystrophin deficiency
  • female

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