Clinicians, researchers, industry and patient group representatives (in total 25 members of the study group from 12 countries) gathered in Hooffdorp 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).

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