[Clinical pathologic studies and genetic analysis of a female Duchenne muscular dystrophy family].
OBJECTIVE
To investigate the clinical features of female Duchenne muscular dystrophy(DMD), and find out the onset mechanism.


METHODS
The clinical manifestations of a female DMD family were followed; the immunofluorescence studies on muscle system and the genetic analysis were carried out.


RESULTS
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.


CONCLUSIONS
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.
Feng
Hui-yu
HY
Department of Neurology, First Affiliated Hospital, Zhongshan University, Guangzhou, Guangdong, 510080 PR China.
Zhang
Cheng
C
Li
Zhong
Z
Yao
Xiao-li
XL
Zeng
Ying
Y
D000328:Adult; D016189:Dystrophin / Q000235:genetics / Q000378:metabolism; D005192:Family Health; D005260:Female; D005455:Fluorescent Antibody Technique; D006801:Humans; D007621:Karyotyping; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D010375:Pedigree
D016189:Dystrophin