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
- nemaline myopathy (NM);
- massively parallel sequencing;
- the ryanodine receptor type 1 gene (RYR1);
- fetal akinesia;
Nemaline myopathy (NM) is a group of congenital myopathies, characterized by the presence of distinct rod-like inclusions “nemaline bodies” in the sarcoplasm of skeletal muscle fibers. To date, ACTA1, NEB, TPM3, TPM2, TNNT1, and CFL2 have been found to cause NM. We have identified recessive RYR1 mutations in a patient with severe congenital NM, through high-throughput screening of congenital myopathy/muscular dystrophy-related genes using massively parallel sequencing with target gene capture. The patient manifested fetal akinesia, neonatal severe hypotonia with muscle weakness, respiratory insufficiency, swallowing disturbance, and ophthalomoplegia. Skeletal muscle histology demonstrated nemaline bodies and small type 1 fibers, but without central cores or minicores. Congenital myopathies, a molecularly, histopathologically, and clinically heterogeneous group of disorders are considered to be a good candidate for massively parallel sequencing. © 2012 Wiley Periodicals, Inc.