Dystrophin test in differential diagnosis of childhood muscular dystrophies.

A. Verma, C. Sarkar, M. V. Padma, R. Dhir, S. Jain, M. C. Maheshwari

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

Abstract

Two cases of childhood muscular dystrophy are described. One of them had clinical features suggestive of Emery-Dreifuss muscular dystrophy and the other with some features of Prader-Willi syndrome, besides proximal muscle weakness. Muscle biopsy from both cases revealed a clear abnormality of dystrophin, and were diagnosed as having Duchenne muscular dystrophy (DMD) by immunofluorescence examination; that is, absent dystrophin at the membrane of the muscle fibers. The clinical spectrum of DMD-related myopathies and the importance of dystrophin testing in childhood muscular dystrophies is discussed.

Original languageEnglish (US)
Pages (from-to)610-613
Number of pages4
JournalThe Journal of the Association of Physicians of India
Volume40
Issue number9
StatePublished - Sep 1992

ASJC Scopus subject areas

  • Medicine(all)

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