title: DNAJB6 myopathy: a vacuolar myopathy with childhood onset.
abstract: BACKGROUND
  DNAJB6 mutations cause an autosomal dominant myopathy that can manifest as limb-girdle muscular dystrophy (LGMD1D/1E) or distal-predominant myopathy. In the majority of patients this myopathy manifests in adulthood and shows vacuolar changes on muscle biopsy.
  
  
  METHODS
  Clinical, electrophysiological, pathological, and molecular findings are reported.
  
  
  RESULTS
  We report a 56-year-old woman, who, like 3 other family members, became symptomatic in childhood with slowly progressive limb-girdle muscle weakness, normal serum creatine kinase (CK) values, and myopathic electromyographic findings. Muscle biopsy showed vacuolar changes and congophilic inclusions, and molecular analysis revealed a pathogenic mutation in the DNAJB6 gene. Differences and similarities with previously described cases are assessed.
  
  
  CONCLUSIONS
  Childhood-onset of DNAJB6 myopathy is more frequent than previously believed; congophilic inclusions may be present in the muscle of these patients.
authors.affiliation: Medical School, Department of Neurology, Mayo Clinic Foundation, 200 First Street SW, Rochester, Minnesota, 55905, USA; Universidad de Antioquia, Medellin, Colombia.
authors.forename: Gerson
authors.initials: G
authors.lastname: Suarez-Cedeno
authors.forename: Thomas
authors.initials: T
authors.lastname: Winder
authors.forename: Margherita
authors.initials: M
authors.lastname: Milone
mesh_terms: D002648:Child; D003402:Creatine Kinase / Q000097:blood; D018450:Disease Progression; D004576:Electromyography; D005260:Female; D050956:HSP40 Heat-Shock Proteins / Q000235:genetics*; D006801:Humans; D016464:Lysosomal Storage Diseases / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D008875:Middle Aged; D018832:Molecular Chaperones / Q000235:genetics*; D009135:Muscular Diseases / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree
chemical_list: C485565:DNAJB6 protein, human; D050956:HSP40 Heat-Shock Proteins; D018832:Molecular Chaperones; D009419:Nerve Tissue Proteins; D003402:Creatine Kinase
keywords: DNAJB6; LGMD1D; LGMD1E; congophilic inclusions; limb-girdle muscular dystrophy; vacuolar myopathy