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New publication: GNE myopathy in the Bedouin population of Kuwait: Genetics, prevalence, and clinical description

Introduction: GNE myopathy is a rare recessive myopathy caused by mutations in the GNE gene. It is mainly a distal myopathy with relative sparing of the quadriceps muscle. Methods: Patients with distal myopathies from Kuwait were examined and tested for the Middle Eastern GNE gene founder mutation, p.M743T. Patients were...
Front cover of the Journal of Neuromuscular Diseases

Latest edition of the Journal of Neuromuscular Diseases now online

The latest edition of the Journal of Neuromuscular Diseases (JND) is available online at the IOS Press website. This edition features open-access articles on new therapeutic targets for centronuclear myopathies, new developments in mdx mouse models, and pulmonary function in DMD, as well as a range of original research articles...

Become a member of the RD-Connect Community

RD-Connect, the European rare disease infrastructure project initiated by Hanns Lochmüller in 2012, has launched a new initiative to take it forward as a permanent resource beyond the initial EU funding period. The new RD-Connect Community is an independent, not-for-profit, international association of individuals and organizations sharing the vision of building an open...