title: Clinical and pathological features in 15 Chinese patients with calpainopathy.
abstract: BACKGROUND
  Calpainopathy is comprised of a group of myopathies caused by deficiency in calcium-activated, neutral protease (calpain-3). In this study we identify calpainopathy in a cohort of Chinese patients with unclassified myopathy and analyze its clinical and pathological features.
  
  
  METHODS
  Sixty-six muscle biopsies were selected for combined Western blotting of dysferlin and calpain-3 after immunohistochemical staining. Clinical and pathological parameters of 15 confirmed calpainopathy cases were determined.
  
  
  RESULTS
  The diagnosis of calpainopathy in 15 Chinese patients was confirmed by Western blot analysis. Fourteen subjects had progressive proximal muscle weakness; 1 presented with bilateral distal muscle atrophy of the lower extremities. Scapular winging was observed in 12 patients (80%), and joint contractures were found in 10 others (66.7%). Histopathological studies showed a high prevalence of lobulated fibers (66.7%).
  
  
  CONCLUSIONS
  Chinese patients with calpainopathy share some common clinical and pathological features with the reported characteristics of non-Chinese patients.
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: Jia-Hong
authors.initials: JH
authors.lastname: Lu
authors.forename: Chong-Bo
authors.initials: CB
authors.lastname: Zhao
authors.forename: Wen-Hua
authors.initials: WH
authors.lastname: Zhu
authors.forename: Jie
authors.initials: J
authors.lastname: Lin
authors.forename: Yin
authors.initials: Y
authors.lastname: Wang
authors.forename: Hui-Min
authors.initials: HM
authors.lastname: Ren
authors.forename: Bo
authors.initials: B
authors.lastname: Yin
authors.forename: Urtizberea J
authors.initials: UJ
authors.lastname: Andoni
mesh_terms: D000328:Adult; D044466:Asian People / Q000208:ethnology* / Q000235:genetics; D002154:Calpain / Q000172:deficiency* / Q000235:genetics; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009124:Muscle Proteins / Q000172:deficiency* / Q000235:genetics; D049288:Muscular Dystrophies, Limb-Girdle / Q000208:ethnology / Q000235:genetics / Q000473:pathology; D055815:Young Adult
chemical_list: D009124:Muscle Proteins; C105884:CAPN3 protein, human; D002154:Calpain