title: GNE-Myopathy in a Greek Romani Family with Unusual Calf Phenotype and Protein Aggregation Pathology.
abstract: GNE-myopathy is increasingly diagnosed in different ethnicities worldwide. No clear genotype-phenotype correlation has been established to date.
  
  
  
  We describe two affected members of the same family from Balkan population carrying an already known homozygous pathogenic mutation in the kinase domain of the UDP-N-acetylglucosamine 2 epimerase/N-acetylmannosamime kinase (GNE) gene. The patients presented with severe distal weakness of lower legs combined with rimmed vacuoles in muscle biopsy. However, in contrast to the typical pattern of muscle involvement, one of them showed severe involvement of posterior calf muscles with spared anterior compartment of the lower leg muscles.
  
  
  
  These patients provide evidence for a larger variability and further extend the phenotypic spectrum of GNE-myopathy to include preferential calf involvement.
authors.affiliation: Department of Neurology, Aegintion Hospital, Medical School of Athens, Greece.
authors.forename: G K
authors.initials: GK
authors.lastname: Papadimas
authors.affiliation: Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.
authors.forename: A
authors.initials: A
authors.lastname: Evilä
authors.affiliation: Department of Neurology, Aegintion Hospital, Medical School of Athens, Greece.
authors.forename: C
authors.initials: C
authors.lastname: Papadopoulos
authors.affiliation: Department of Neurology, Aegintion Hospital, Medical School of Athens, Greece.
authors.forename: E
authors.initials: E
authors.lastname: Kararizou
authors.affiliation: Department of Neurology, Aegintion Hospital, Medical School of Athens, Greece.
authors.forename: P
authors.initials: P
authors.lastname: Manta
authors.affiliation: Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.|Neuromuscular Research Center, University of Tampere and Tampere University Hospital, Tampere, Finland.|Department of Neurology, Vaasa Central Hospital, Vaasa, Finland.
authors.forename: B
authors.initials: B
authors.lastname: Udd
mesh_terms: D000328:Adult; D004268:DNA-Binding Proteins / Q000378:metabolism; D006115:Greece; D006720:Homozygote; D006801:Humans; D007866:Leg; D008297:Male; D008869:Microtubule-Associated Proteins / Q000378:metabolism; D009097:Multienzyme Complexes / Q000235:genetics; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology*; D009135:Muscular Diseases / Q000235:genetics / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology*; D009154:Mutation; D010641:Phenotype; D066263:Protein Aggregation, Pathological / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology*; D016601:RNA-Binding Proteins / Q000378:metabolism; D006178:Romani People / Q000235:genetics; D025801:Ubiquitin / Q000378:metabolism; D014617:Vacuoles / Q000473:pathology
chemical_list: D004268:DNA-Binding Proteins; C477012:MAP1LC3A protein, human; D008869:Microtubule-Associated Proteins; D009097:Multienzyme Complexes; C118585:P62 protein, human; D016601:RNA-Binding Proteins; C000598624:TARDBP protein, human; C482901:UDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinase; D025801:Ubiquitin
keywords: GNE-myopathy; distal myopathy; protein aggregates