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

2004 ◽  
Vol 14 (2) ◽  
pp. 158-161 ◽  
Author(s):  
F. Saito ◽  
H. Tomimitsu ◽  
K. Arai ◽  
S. Nakai ◽  
T. Kanda ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Japanese Patient ◽  
Distal Myopathy ◽  
Missense Mutations ◽  
Rimmed Vacuoles ◽  
Gne Gene

Distal myopathy with rimmed vacuoles: Novel mutations in the GNE gene

Neurology ◽  
2002 ◽  
Vol 59 (3) ◽  
pp. 451-454 ◽  
Author(s):  
H. Tomimitsu ◽  
K. Ishikawa ◽  
J. Shimizu ◽  
N. Ohkoshi ◽  
I. Kanazawa ◽  
...  
Keyword(s):  
Distal Myopathy ◽  
Novel Mutations ◽  
Rimmed Vacuoles ◽  
Gne Gene

Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy)

2013 ◽  
Vol 85 (8) ◽  
pp. 914-917 ◽  
Author(s):  
A. Cho ◽  
Y. K. Hayashi ◽  
K. Monma ◽  
Y. Oya ◽  
S. Noguchi ◽  
...  
Keyword(s):  
Japanese Patients ◽  
Distal Myopathy ◽  
Rimmed Vacuoles ◽  
Gne Myopathy ◽  
Mutation Profile ◽  
Gne Gene

scholarly journals Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles

2005 ◽  
Vol 51 (2) ◽  
pp. 137-140 ◽  
Author(s):  
Byoung Joon Kim ◽  
Chang-Seok Ki ◽  
Jong-Won Kim ◽  
Duk Hyun Sung ◽  
Young-Chul Choi ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Distal Myopathy ◽  
Rimmed Vacuoles ◽  
Korean Patients ◽  
Gne Gene

Heterozygous mutations affecting the epimerase domain of the GNE gene causing distal myopathy with rimmed vacuoles in a Taiwanese family

2007 ◽  
Vol 109 (3) ◽  
pp. 250-256 ◽  
Author(s):  
Chun-Che Chu ◽  
Hung-Chou Kuo ◽  
Tu-Hsueh Yeh ◽  
Long-Sun Ro ◽  
Shyue-Ru Chen ◽  
...  
Keyword(s):  
Distal Myopathy ◽  
Rimmed Vacuoles ◽  
Gne Gene

scholarly journals Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles

2006 ◽  
Vol 51 (9) ◽  
pp. 840-840 ◽  
Author(s):  
Byoung Joon Kim ◽  
Chang-Seok Ki ◽  
Jong-Won Kim ◽  
Duk Hyun Sung ◽  
Young-Chul Choi ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Distal Myopathy ◽  
Rimmed Vacuoles ◽  
Korean Patients ◽  
Gne Gene
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