Dystrophin test in differential diagnosis of childhood muscular dystrophies.

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

Research output: Contribution to journalArticle

1 Citation (Scopus)

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
Externally publishedYes

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Dystrophin
Muscular Dystrophies
Differential Diagnosis
Duchenne Muscular Dystrophy
Emery-Dreifuss Muscular Dystrophy
Prader-Willi Syndrome
Muscles
Muscle Weakness
Muscular Diseases
Fluorescent Antibody Technique
Biopsy
Membranes

ASJC Scopus subject areas

  • Medicine(all)

Cite this

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.

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 journalArticle

Verma, A, Sarkar, C, Padma, MV, Dhir, R, Jain, S & Maheshwari, MC 1992, 'Dystrophin test in differential diagnosis of childhood muscular dystrophies.', The Journal of the Association of Physicians of India, vol. 40, no. 9, pp. 610-613.
Verma, Ashok ; Sarkar, C. ; Padma, M. V. ; Dhir, R. ; Jain, S. ; Maheshwari, M. C. / Dystrophin test in differential diagnosis of childhood muscular dystrophies. In: The Journal of the Association of Physicians of India. 1992 ; Vol. 40, No. 9. pp. 610-613.
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