title: [Sibling brother and sister both with Duchenne muscular dystrophy].
abstract: 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.
authors.affiliation: Department of Neurology and Rehabilitation, Guangzhou Children's Hospital, Guangzhou 510120, China.
authors.forename: Ya-ni
authors.initials: YN
authors.lastname: Zhang
authors.forename: Cheng
authors.initials: C
authors.lastname: Zhang
authors.forename: Hui-yu
authors.initials: HY
authors.lastname: Feng
authors.forename: Xiao-fang
authors.initials: XF
authors.lastname: Sun
authors.forename: Xi-lin
authors.initials: XL
authors.lastname: Lu
authors.forename: Shao-ying
authors.initials: SY
authors.lastname: Li
authors.forename: Hui-min
authors.initials: HM
authors.lastname: Zhang
authors.forename: Mei-shan
authors.initials: MS
authors.lastname: Li
authors.forename: Mei-juan
authors.initials: MJ
authors.lastname: Yu
authors.forename: Shu-hui
authors.initials: SH
authors.lastname: Wang
authors.forename: Hui
authors.initials: H
authors.lastname: Huang
authors.forename: Zhong
authors.initials: Z
authors.lastname: Li
authors.forename: Ben-chang
authors.initials: BC
authors.lastname: Shen
mesh_terms: 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
chemical_list: D016189:Dystrophin