title: [Correlation between genotypes and phenotypes in pseudohypertrophic muscular dystrophy].
abstract: OBJECTIVE
  To explore the correlation between genotypes and phenotypes in Chinese patients with pseudohypertrophic muscular dystrophy.
  
  
  METHODS
  Patients with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) were diagnosed clinically. Multiplex ligation-dependent probe amplification (MLPA) were performed to detect potential DMD gene mutations. The results were analyzed statistically.
  
  
  RESULTS
  Among 280 patients, 238(85.0%) were diagnosed with DMD, 35(12.50%) were diagnosed with BMD and 7(2.5%) were diagnosed with intermediate muscular dystrophin (IMD). Among these, 252(92.31%) were in-frame mutations, and 21(7.69%) were out-of-frame mutations. Twelve patients with DMD have carried in-frame mutations, 9 with BMD have carried frame-shift mutations, and 7 IMD patients have carried frame-shift mutation.
  
  
  CONCLUSIONS
  Most of the genotypes and phenotypes of DMD have complied with the reading-frame hypothesis. Patients with BMD with frame-shift mutations may facilitate understanding of the pathogenesis of DMD, and provide a theoretical basis for clinical therapy.
authors.affiliation: Institute of Population Research, Peking University, Beijing 100078, P R China.
authors.forename: Shan-wei
authors.initials: SW
authors.lastname: Feng
authors.forename: Ying-yin
authors.initials: YY
authors.lastname: Liang
authors.forename: Ji-qing
authors.initials: JQ
authors.lastname: Cao
authors.forename: Xin-ming
authors.initials: XM
authors.lastname: Song
authors.forename: Cheng
authors.initials: C
authors.lastname: Zhang
mesh_terms: D016189:Dystrophin / Q000235:genetics*; D005091:Exons; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D010641:Phenotype
chemical_list: D016189:Dystrophin