title: [Investigation of a family with Kennedy disease by genetic analysis].
abstract: OBJECTIVE
  To report on a Chinese family from Wenzhou with genetically confirmed Kennedy disease and describe its clinical and genetic features.
  
  
  METHODS
  The clinical phenotype and the level of relevant biochemical markers were assessed. To determine the number of CAG repeats in the exon 1 of androgen receptor (AR) gene, genomic DNA was extracted from peripheral blood samples of the family members, amplified by PCR and identified by DNA sequencing.
  
  
  RESULTS
  The proband showed predominantly proximal limb weakness, fasciculation, muscle atrophy, gynecomastia, sexual dysfunction and increased serum creatine kinase. Myopathy and neuropathy were identified by electromyography. Two other affected males and 2 affected female carriers were identified to carry an expanded CAG repeat in the AR gene. The numbers of CAG repeats were found to be 43 in the proband, 43 and 42 in the other two affected males, one of which had similar clinical symptoms to the proband.
  
  
  CONCLUSIONS
  The family was diagnosed with Kennedy disease by analysis of the AR gene.
authors.affiliation: Zhejiang Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang 325035, P. R. China. jxlu313@163.com.
authors.forename: Runping
authors.initials: R
authors.lastname: Fan
authors.forename: Longyi
authors.initials: L
authors.lastname: Zhang
authors.forename: Jie
authors.initials: J
authors.lastname: Zhang
authors.forename: Bei
authors.initials: B
authors.lastname: Shao
authors.forename: Dongbo
authors.initials: D
authors.lastname: Pan
authors.forename: Jianxin
authors.initials: J
authors.lastname: Lyu
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D055534:Bulbo-Spinal Atrophy, X-Linked / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D003402:Creatine Kinase / Q000097:blood; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree; D011944:Receptors, Androgen / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion; D055815:Young Adult
chemical_list: D011944:Receptors, Androgen; D003402:Creatine Kinase