Clinical pathologic studies and genetic analysis of a female Duchenne muscular dystrophy family / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 65-67, 2005.
Article
in Chinese
| WPRIM
| ID: wpr-321158
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the clinical features of female Duchenne muscular dystrophy(DMD), and find out the onset mechanism.</p><p><b>METHODS</b>The clinical manifestations of a female DMD family were followed; the immunofluorescence studies on muscle system and the genetic analysis were carried out.</p><p><b>RESULTS</b>The clinical manifestations and results of relevant examinations on the DMD woman in this family were in accordance with the typical characteristics of DMD. The 39-year-old mother of this proband was noted to have a clinical feature resembling that of Becker muscular dystrophy (BMD), and the immunofluorescence analysis revealed that dystrophin positive fibers and negative fibers co-existed in her muscle. The dystrophy genetic analysis of the family indicated non-deletions. The mother's karyotype was found to be normal.</p><p><b>CONCLUSION</b>The 39-year-old female patient's clinical manifestations were similar to BMD, and only one third of her fibers were dystrophin-positive. The present authors assume that the skewed pattern of X inactivation is the likely mechanism, because the karyotype is normal.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pathology
/
Pedigree
/
Family Health
/
Dystrophin
/
Fluorescent Antibody Technique
/
Muscular Dystrophy, Duchenne
/
Genetics
/
Karyotyping
/
Metabolism
Limits:
Adult
/
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2005
Type:
Article
Similar
MEDLINE
...
LILACS
LIS