Dystrophin test in differential diagnosis of childhood muscular dystrophies.

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

Dystrophin test in differential diagnosis of childhood muscular dystrophies.

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

Neurology

Research output: Contribution to journal › Article › peer-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 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

ASJC Scopus subject areas

Medicine(all)

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title = "Dystrophin test in differential diagnosis of childhood muscular dystrophies.",

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.",

author = "A. Verma and C. Sarkar and Padma, {M. V.} and R. Dhir and S. Jain and Maheshwari, {M. C.}",

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T1 - Dystrophin test in differential diagnosis of childhood muscular dystrophies.

AU - Verma, A.

AU - Sarkar, C.

AU - Padma, M. V.

AU - Dhir, R.

AU - Jain, S.

AU - Maheshwari, M. C.

N1 - Copyright: This record is sourced from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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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