A Japanese patient with distal myopathy with rimmed vacuoles: missense mutations in the epimerase domain of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene accompanied by hyposialylation of skeletal muscle glycoproteins

✍ Scribed by F. Saito; H. Tomimitsu; K. Arai; S. Nakai; T. Kanda; T. Shimizu; H. Mizusawa; K. Matsumura

• Book ID: 116792132
• Publisher: Elsevier Science
• Year: 2004
• Tongue: English
• Weight: 178 KB
• Volume: 14
• Category: Article
• ISSN: 0960-8966
• DOI: 10.1016/j.nmd.2003.09.006