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GNE-Myopathy in a Greek Romani Family with Unusual Calf Phenotype and Protein Aggregation Pathology

  • Published:2016-05-27 Issue:2 Volume:3 Page:283-288
  • ISSN:2214-3599
  • Container-title:Journal of Neuromuscular Diseases
  • language:
  • Short-container-title:JND

Author:

Papadimas G.K.1,Evilä A.2,Papadopoulos C.1,Kararizou E.1,Manta P.1,Udd B.234

Affiliation:

1. Department of Neurology, Aegintion Hospital, Medical School of Athens, Greece

2. Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland

3. Neuromuscular Research Center, University of Tampere and Tampere University Hospital, Tampere, Finland

4. Department of Neurology, Vaasa Central Hospital, Vaasa, Finland

Publisher

IOS Press

Subject

Neurology (clinical),Neurology

Reference22 articles.

1. Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation;Nonaka;J Neurol Sci,1981

2. New advances in the understanding of sporadic inclusion-body myositis and hereditaryinclusion-body myopathies;Askanas;Curr Opin Rheumatol,1995

3. Hereditary inclusion-body myopathy with sparing of the quadriceps: The many tiles of an incomplete puzzle;Broccolini;Acta Myol,2011

4. Hereditary inclusion body myopathy: A decade of progress;Huizing;Biochim Biophys Acta,2009

5. Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define thedisease sialuria and the allosteric site of the enzyme;Seppala;Am J Hum Genet,1999

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