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 |
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ASJC Scopus subject areas
- Medicine(all)
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Dystrophin test in differential diagnosis of childhood muscular dystrophies. / Verma, Ashok; Sarkar, C.; Padma, M. V.; Dhir, R.; Jain, S.; Maheshwari, M. C.
In: The Journal of the Association of Physicians of India, Vol. 40, No. 9, 09.1992, p. 610-613.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Dystrophin test in differential diagnosis of childhood muscular dystrophies.
AU - Verma, Ashok
AU - Sarkar, C.
AU - Padma, M. V.
AU - Dhir, R.
AU - Jain, S.
AU - Maheshwari, M. C.
PY - 1992/9
Y1 - 1992/9
N2 - 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.
AB - 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.
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UR - http://www.scopus.com/inward/citedby.url?scp=0026920849&partnerID=8YFLogxK
M3 - Article
C2 - 1308019
AN - SCOPUS:0026920849
VL - 40
SP - 610
EP - 613
JO - The Journal of the Association of Physicians of India
JF - The Journal of the Association of Physicians of India
SN - 0004-5772
IS - 9
ER -