title: Distal myopathy with rimmed vacuoles: clinical and muscle morphological characteristics and spectrum of GNE gene mutations in 53 Chinese patients.
abstract: OBJECTIVE
  Distal myopathy with rimmed vacuoles (DMRV) is a typical autosomal recessive hereditary inclusion body myopathy, characterized by slowly progressive distal muscle weakness with relative sparing of the quadriceps. This study aimed to investigate  the variability of clinical and morphological presentation and the spectrum of Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE) mutations in Chinese DMRV patients.
  
  
  METHODS
  We retrospectively reviewed the medical records of 37 patients with DMRV in PLA General  Hospital from 1986 to 2011, and further conducted a review of 16 reported Chinese DMRV patients from other hospitals. We systematically analyzed the clinical, muscle morphological features and GNE gene mutation status of all DMRV patients.
  
  
  RESULTS
  A total of 53 DMRV patients were  studied. Fourteen cases had family history and other 39 cases were sporadic. Fifteen cases showed atypical pathological presentation as mononuclear cell invasion into necrotic or non-necrotic muscle fibers. Rare initial symptom, earlier age of onset and more dysmorphic presentations were shown  in sporadic patients. Eighteen mutations in GNE gene were identified. c.317T>C (p.I106T) was a novel GNE gene mutation. c.1892C>T (p.A631V), c.527A>T (p.D176V) and c.1523T>C (p.L508S) were the common GNE mutations in Chinese DMRV patients.
  
  
  CONCLUSIONS
  The clinical, pathological  and genetic characteristics of DMRV are distinct in Chinese patients.
authors.affiliation: Chinese PLA General Hospital, Beijing, China.
authors.forename: Xianghui
authors.initials: X
authors.lastname: Lu
authors.forename: Chuanqiang
authors.initials: C
authors.lastname: Pu
authors.forename: Xusheng
authors.initials: X
authors.lastname: Huang
authors.forename: Jiexiao
authors.initials: J
authors.lastname: Liu
authors.forename: Yanling
authors.initials: Y
authors.lastname: Mao
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D049310:Distal Myopathies / Q000201:enzymology* / Q000235:genetics* / Q000473:pathology; D005260:Female; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000201:enzymology* / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D017354:Point Mutation / Q000235:genetics*; D012189:Retrospective Studies; D055815:Young Adult