Eri Kondo and Takafumi Nishimura contributed equally to this work.
Article first published online: 9 MAR 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 4, pages 772–778, April 2012
How to Cite
Kondo, E., Nishimura, T., Kosho, T., Inaba, Y., Mitsuhashi, S., Ishida, T., Baba, A., Koike, K., Nishino, I., Nonaka, I., Furukawa, T. and Saito, K. (2012), Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing. Am. J. Med. Genet., 158A: 772–778. doi: 10.1002/ajmg.a.35243
How to Cite this Article: Kondo E, Nishimura T, Kosho T, Inaba Y, Mitsuhashi S, Ishida T, Baba A, Koike K, Nishino I, Nonaka I, Furukawa T, Saito K. 2012. Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing. Am J Med Genet Part A 158A:772–778.
- Issue published online: 23 MAR 2012
- Article first published online: 9 MAR 2012
- Manuscript Accepted: 8 JAN 2012
- Manuscript Received: 1 OCT 2011
- Research Committee of Spinal muscular atrophy (SMA)
- Support Center for Women's Health Care Professionals and Researchers
- Research on Intractable Diseases, Ministry of Health, Labour and Welfare, Japan
- Ministry of Education, Culture, Sports, Science and Technology in Japan
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