Clinical Characteristics and Molecular Genetic Analysis of Korean Patients with GNE Myopathy

@inproceedings{Sim2013ClinicalCA,
  title={Clinical Characteristics and Molecular Genetic Analysis of Korean Patients with GNE Myopathy},
  author={Jae Eun Sim and Hyung-Jun Park and Ha Young Shin and Tai-Seung Nam and Seung Min Kim and Young Chul Choi},
  booktitle={Yonsei medical journal},
  year={2013}
}
PURPOSE Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE) myopathy is an autosomal recessive neuromuscular disorder characterized by early adult-onset weakness of the distal muscles of the lower limbs. The clinical spectrum of GNE myopathy varies, and it is not clear how the same GNE gene mutations can result in different phenotypes. Here, we present clinical, pathological and genetic characteristics of twenty-one Korean patients with GNE myopathy. MATERIALS AND METHODS… CONTINUE READING

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