Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles-Reference-Cited by-同舟云学术

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Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles

Published:2011-02-10 Issue:4 Volume:56 Page:335-338
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Li Honghao,Chen Qi,Liu Fuchen,Zhang Xuemei,Liu Tao,Li Wei,Liu Shuping,Zhao Yuying,Wen Bing,Dai Tingjun,Lin Pengfei,Gong Yaoqin,Yan Chuanzhu

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/jhg201115.pdf

Reference20 articles.

1. Argov, Z., Eisenberg, I. & Mitrani-Rosenbaum, S. Genetics of inclusion body myopathies. Curr. Opin. Rheumatol. 10, 543–547 (1998).

2. Nonaka, I., Sunohara, N., Ishiura, S. & Satoyoshi, E. Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation. J. Neurol. Sci. 51, 141–155 (1981).

3. Kayashima, T., Matsuo, H., Satoh, A., Ohta, T., Yoshiura, K., Matsumoto, N. et al. Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE). J. Hum. Genet. 47, 77–79 (2002).

4. Eisenberg, I., Avidan, N., Potikha, T., Hochner, H., Chen, M., Olender, T. et al. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. Nat. Genet. 29, 83–87 (2001).

5. Darvish, D., &, Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737). Mol. Genet. Metab. 77, 252–256 (2002).

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