title: [Clinical characteristics and desmin mutations in patients with desminopathy associated cardiomyopathy from 5 Chinese families].
abstract: OBJECTIVE
  To investigate the clinical and myopathological characteristics and desmin mutations in patients with desminopathy associated cardiomyopathy from 5 Chinese families.
  
  
  METHODS
  Thirty-six individuals (18 male, 18 female) were from 4 autosomal dominant inherited families and 1 sporadic case. Nineteen patients manifested myopathy followed by cardiomyopathy; 13 patients presented with isolated cardiomyopathy; 1 patient had isolated myopathy; 3 patients died of cardiac diseases without detailed clinical information. Out of the 23 patients underwent electrocardiogram examinations, 20 patients showed kinds of abnormalities in cardiac conduction block. Echocardiogram revealed dilated cardiomyopathy in one case, hypertrophic cardiomyopathy in one case, and restrictive cardiomyopathy in two cases. Muscle specimens from 7 different patients were performed for histological, immunohistochemistry and ultrastructural examinations. All exons of the desmin gene were screened in 21 patients, 17 asymptomatic family individuals and 50 Chinese controls.
  
  
  RESULTS
  Muscle biopsies revealed multiple proteins aggregated in muscle fibers, also supported by immunostaining and electroscopic examinations. Five novel heterogeneous mutations were identified in 4 families and one sporadic case.
  
  
  CONCLUSIONS
  Novel mutations of desmin gene were linked with cardiomyopathy in patients from 5 Chinese families with desminopathy.
authors.affiliation: Department of Neurology, Peking University First Hospital, Beijing 100034, China.
authors.forename: Dao-jun
authors.initials: DJ
authors.lastname: Hong
authors.forename: Wei
authors.initials: W
authors.lastname: Zhang
authors.forename: Teng-yong
authors.initials: TY
authors.lastname: Jiang
authors.forename: Lei
authors.initials: L
authors.lastname: Feng
authors.forename: Zhao-xia
authors.initials: ZX
authors.lastname: Wang
authors.forename: Yun
authors.initials: Y
authors.lastname: Yuan
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D009202:Cardiomyopathies / Q000175:diagnosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D003893:Desmin / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree
chemical_list: D003893:Desmin