Dystrophin test in differential diagnosis of childhood muscular dystrophies.
Article
Dans Anglais
| IMSEAR
| ID: sea-90096
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.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
Sujet Principal:
Syndrome de Prader-Willi
/
Biopsie
/
Humains
/
Dystrophine
/
Technique d'immunofluorescence
/
Diagnostic différentiel
/
Dystrophies musculaires
Type d'étude:
Etude diagnostique
langue:
Anglais
Année:
1992
Type:
Article
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