237th ENMC International Workshop: GNE myopathy – current and future research Hoofddorp, The Netherlands, 14–16 September 2018

Clinicians, researchers, industry and patient group representatives (in total 25 members of the study group from 12 countries) gathered in Hoofddorp in September 2018 to discuss current knowledge and perspective research in GNE myopathy (previously known as Nonaka disease, Quadriceps Sparing Myopathy, Distal Myopathy with Rimmed Vacuoles or Hereditary inclusion body myopathy type 2). GNE myopathy is an -rare autosomal recessive disease caused by bi-allelic mutations in the GNE gene (UDP-N-acetyl) −2-epimerase/N-acetylmannosamine kinase).

Source: Neuromuscular Disorders - February 28, 2019 Category: Neurology Authors: Oksana Pogoryelova, J. Andoni Urtizberea, Zohar Argov, Ichizo Nishino, Hanns Lochm üller, ENMC workshop study group Tags: Workshop report Source Type: research