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Chinese Journal of Medical Genetics ; (6): 239-242, 2002.
Article Dans Chinois | WPRIM | ID: wpr-245324

Résumé

<p><b>OBJECTIVE</b>To establish a specific technique for diagnosing and classifying Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), facioscapulohumeral muscular dystrophy (FSHD) and neurologic dystrophy.</p><p><b>METHODS</b>Forty-seven cases were detected by immunofluorescence technique for analyzing dystrophin located in skeletal muscle cell membrane with the use of mouse monoclonal antibodies, goat and rabbit polyclonal antibodies.</p><p><b>RESULTS</b>The normal individuals showed ringed positive staining stripe around muscle fibers. Negative result of staining was seen in 16 DMD patients. Eleven BMD patients had discontinuous or a patchy positive staining pattern, and all of 10 FSHD and 10 neurological amyotrophic patients showed positive dystrophin staining.</p><p><b>CONCLUSION</b>Detecting dystrophin in the skeletal muscle cell membrane of muscular patients is an efficient technique for diagnosing and classifying various types of muscular dystrophy.</p>


Sujets)
Adolescent , Adulte , Enfant , Enfant d'âge préscolaire , Femelle , Humains , Mâle , Diagnostic différentiel , Dystrophine , Technique d'immunofluorescence , Méthodes , Muscles squelettiques , Chimie , Anatomopathologie , Dystrophies musculaires , Diagnostic , Métabolisme , Myopathie de Duchenne , Diagnostic , Métabolisme , Dystrophie musculaire facio-scapulo-humérale , Diagnostic , Métabolisme , Maladies neuromusculaires , Diagnostic , Métabolisme
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