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 language | English (US) |
|---|---|
| Pages (from-to) | 610-613 |
| Number of pages | 4 |
| Journal | The Journal of the Association of Physicians of India |
| Volume | 40 |
| Issue number | 9 |
| State | Published - Sep 1992 |
| Externally published | Yes |
ASJC Scopus subject areas
- Medicine(all)
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Verma, A., Sarkar, C., Padma, M. V., Dhir, R., Jain, S., & Maheshwari, M. C. (1992). Dystrophin test in differential diagnosis of childhood muscular dystrophies. The Journal of the Association of Physicians of India, 40(9), 610-613.