title: Genetic variability and clinical spectrum of Chinese patients with limb-girdle muscular dystrophy type 2A.
abstract: BACKGROUND
  Previous studies of limb-girdle muscular dystrophy type 2A (LGMD2A) patients in many countries have suggested a heterogeneous genetic and clinical spectrum, but the genotypes and phenotypes of Chinese LGMD2A patients remain unclear.
  
  
  METHODS
  We directly screened calpain-3 (CAPN3) in 18 Chinese Han subjects who exhibited severely reduced or completely absent calpain-3 expression, as determined by Western blot analysis. We subsequently analyzed genotype/phenotype correlations.
  
  
  RESULTS
  Seventeen patients (94.4%) were identified who had at least 1 causative mutation. All 18 mutations were distributed along the entire gene, and 11 of the mutations were novel, including 4 missense mutations, 5 deletions, and 2 splicing mutations. The phenotypes of these Chinese LGMD2A patients varied from severe LGMD to distal myopathy, and even asymptomatic hyper-CK-emia.
  
  
  CONCLUSIONS
  No evidential correlation was found between the genotypes and phenotypes of the patients assessed in this study. Western blot analysis is still a useful diagnostic method when genetic analysis is unavailable.
authors.affiliation: Department of Neurology, Huashan Hospital, Fudan University, No 12 Middle Wulumuqi Road, Shanghai 200040, China.
authors.forename: Su-Shan
authors.initials: SS
authors.lastname: Luo
authors.forename: Jian-Ying
authors.initials: JY
authors.lastname: Xi
authors.forename: Wen-Hua
authors.initials: WH
authors.lastname: Zhu
authors.forename: Chong-Bo
authors.initials: CB
authors.lastname: Zhao
authors.forename: Jia-Hong
authors.initials: JH
authors.lastname: Lu
authors.forename: Jie
authors.initials: J
authors.lastname: Lin
authors.forename: Yin
authors.initials: Y
authors.lastname: Wang
authors.forename: Jun
authors.initials: J
authors.lastname: Lu
authors.forename: Kai
authors.initials: K
authors.lastname: Qiao
mesh_terms: D000293:Adolescent; D000328:Adult; D017398:Alternative Splicing / Q000235:genetics; D044466:Asian People / Q000235:genetics*; D002154:Calpain / Q000172:deficiency / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009124:Muscle Proteins / Q000172:deficiency / Q000235:genetics*; D049288:Muscular Dystrophies, Limb-Girdle / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D020125:Mutation, Missense / Q000235:genetics; D012189:Retrospective Studies; D055815:Young Adult
chemical_list: D009124:Muscle Proteins; C105884:CAPN3 protein, human; D002154:Calpain