Affiliations: [a] Department of Neurology, Aegintion Hospital, Medical School of Athens, Greece
| [b] Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland
| [c] Neuromuscular Research Center, University of Tampere and Tampere University Hospital, Tampere, Finland
| [d] Department of Neurology, Vaasa Central Hospital, Vaasa, Finland
Correspondence:
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Correspondence to: George K. Papadimas, MD, University of Athens, School of Medicine, 1st Department of Neurology, Eginition Hospital, 74, Vas. Sophias Ave., 11528 Athens, Greece. Tel.: +302107289152; Fax: +302107216474; E-mail: [email protected].
Abstract: Background: GNE-myopathy is increasingly diagnosed in different ethnicities worldwide. No clear genotype-phenotype correlation has been established to date. Case reports: 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. Conclusions: These patients provide evidence for a larger variability and further extend the phenotypic spectrum of GNE-myopathy to include preferential calf involvement.
Keywords: GNE-myopathy, distal myopathy, protein aggregates
