[Sibling brother and sister both with Duchenne muscular dystrophy].
OBJECTIVE
To investigate the clinical and lab features of sibling brother and sister both with Duchenne muscular dystrophy (DMD).


METHODS
We conducted comprehensive clinical and lab investigations including the test of serum enzymes, electromyography (EMG), electrocardiography, color Doppler echocardiography, HE staining of skeletal muscles, immunohistochemical study of dystrophin and utrophin, multiple ligation probe amplification (MLPA) on exon 1-79 of dystrophin gene, and short tandem repeat-poly- merase chain reaction of CA repeats located in dystrophin gene.


RESULTS
These two patients were confirmed to suffer from DMD. They were characterized by typical features of DMD including typical clinical manifestations, increased serum enzymes, EMG presenting myogenic impairment, HE staining presentation belonging to DMD, negative dystrophin in brother, and inconstantly positive on the sarcolemma of sister. Furthermore, no deletion or duplication was found in the 1-79 exons of dystrophin gene. The suffering brother and sister carried the same maternal X chromosome.


CONCLUSIONS
Carriers of DMD gene show typical clinical and laboratory manifestations of DMD. Comprehensive examinations should be performed for such carriers.
Zhang
Ya-ni
YN
Department of Neurology and Rehabilitation, Guangzhou Children's Hospital, Guangzhou 510120, China.
Zhang
Cheng
C
Feng
Hui-yu
HY
Sun
Xiao-fang
XF
Lu
Xi-lin
XL
Li
Shao-ying
SY
Zhang
Hui-min
HM
Li
Mei-shan
MS
Yu
Mei-juan
MJ
Wang
Shu-hui
SH
Huang
Hui
H
Li
Zhong
Z
Shen
Ben-chang
BC
D016189:Dystrophin / Q000235:genetics; D005260:Female; D008040:Genetic Linkage; D006579:Heterozygote; D006801:Humans; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D035781:Siblings
D016189:Dystrophin