title: Heterozygous mutations affecting the epimerase domain of the GNE gene causing distal myopathy with rimmed vacuoles in a Taiwanese family.
abstract: OBJECTIVE
  Studies of distal myopathy with rimmed vacuoles (DMRV) revealed that most patients had mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. However, the correlation between GNE mutations and clinical features was not fully understood.
  
  
  OBJECTIVE
  To report the correlation between the clinical features and genetic analysis of DMRV patients.
  
  
  METHODS
  The clinical presentations, histopathological findings, image studies, and genetic analyses of two patients with DMRV from a Taiwanese family were studied.
  
  
  RESULTS
  Two compound heterozygous mutations, Ile 241 Ser and Arg 246 Gln, located in the epimerase domain, were identified in both patients, who were of the same generation. In addition, the elder sister showed a progressive muscular dystrophy course with severe quadriceps and trunk muscle involvement.
  
  
  CONCLUSIONS
  The compound heterozygous mutations in the epimerase domain of the GNE gene are important in the severe phenotype of DMRV. However, the mechanisms leading to this phenotypic heterogeneity still remain to be elucidated.
authors.affiliation: Department of Neurology, Chang Gung Memorial Hospital and University, 199 Tung-Hwa North Road, Taipei, Taiwan.
authors.forename: Chun-Che
authors.initials: CC
authors.lastname: Chu
authors.forename: Hung-Chou
authors.initials: HC
authors.lastname: Kuo
authors.forename: Tu-Hsueh
authors.initials: TH
authors.lastname: Yeh
authors.forename: Long-Sun
authors.initials: LS
authors.lastname: Ro
authors.forename: Shyue-Ru
authors.initials: SR
authors.lastname: Chen
authors.forename: Chin-Chang
authors.initials: CC
authors.lastname: Huang
mesh_terms: D000328:Adult; D001706:Biopsy; D004252:DNA Mutational Analysis; D049310:Distal Myopathies / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics*; D016189:Dystrophin / Q000737:chemistry; D005260:Female; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D007150:Immunohistochemistry; D008279:Magnetic Resonance Imaging; D008297:Male; D009097:Multienzyme Complexes / Q000235:genetics* / Q000378:metabolism*; D018482:Muscle, Skeletal / Q000201:enzymology / Q000276:immunology / Q000648:ultrastructure; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics*; D019998:Racemases and Epimerases / Q000235:genetics* / Q000378:metabolism*; D013624:Taiwan; D014617:Vacuoles / Q000201:enzymology* / Q000276:immunology / Q000648:ultrastructure
chemical_list: D016189:Dystrophin; D009097:Multienzyme Complexes; C482901:UDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinase; D019998:Racemases and Epimerases