Dystrophin test in differential diagnosis of childhood muscular dystrophies.
Article
in English
| 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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Prader-Willi Syndrome
/
Biopsy
/
Humans
/
Dystrophin
/
Fluorescent Antibody Technique
/
Diagnosis, Differential
/
Muscular Dystrophies
Type of study:
Diagnostic study
Language:
English
Year:
1992
Type:
Article
Similar
MEDLINE
...
LILACS
LIS