- Clinical Characteristics and Molecular Genetic Analysis of Korean Patients with GNE Myopathy
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Sim JE, Park HJ, Shin HY, Nam TS, Kim SM, Choi YC
- KMID: 1727867
- Yonsei Med J.
- 2013 May;54(3):578-582.
- doi: 10.3349/ymj.2013.54.3.578
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... -
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