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Case Reports in Pediatrics
Volume 2013, Article ID 607678, 3 pages
http://dx.doi.org/10.1155/2013/607678
Case Report

A Case Report of Congenital Fiber Type Disproportion with an Increased Level of Anti-ACh Receptor Antibodies

Department of Child Development, Kumamoto University Graduate School, 1-1-1 Honjo, Kumamoto 860-0811, Japan

Received 15 March 2013; Accepted 4 May 2013

Academic Editors: B. Das and A. W. Kamps

Copyright © 2013 Shigemi Kimura et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. M. C. Sharma, D. Jain, C. Sarkar, and H. H. Goebel, “Congenital myopathies—a comprehensive update of recent advancements,” Acta Neurologica Scandinavica, vol. 119, no. 5, pp. 281–292, 2009. View at Publisher · View at Google Scholar · View at Scopus
  2. N. F. Clarke, B. Ilkovski, S. Cooper et al., “The pathogenesis of ACTA1-related congenital fiber type disproportion,” Annals of Neurology, vol. 61, no. 6, pp. 552–561, 2007. View at Publisher · View at Google Scholar · View at Scopus
  3. N. F. Clarke, W. Kidson, S. Quijano-Roy et al., “SEPN1: associated with congenital fiber-type disproportion and insulin resistance,” Annals of Neurology, vol. 59, no. 3, pp. 546–552, 2006. View at Publisher · View at Google Scholar · View at Scopus
  4. N. F. Clarke, H. Kolski, D. E. Dye et al., “Mutations in TPM3 are a common cause of congenital fiber type disproportion,” Annals of Neurology, vol. 63, no. 3, pp. 329–337, 2008. View at Publisher · View at Google Scholar · View at Scopus
  5. N. F. Clarke, L. B. Waddell, S. T. Cooper et al., “Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion,” Human Mutation, vol. 31, no. 7, pp. E1544–E1550, 2010. View at Publisher · View at Google Scholar · View at Scopus
  6. M. Benatar and H. J. Kaminski, “Evidence report: the medical treatment of ocular myasthenia (an evidence-based review)—report of the quality standards subcommittee of the American academy of neurology,” Neurology, vol. 68, no. 24, pp. 2144–2149, 2007. View at Publisher · View at Google Scholar · View at Scopus
  7. F. E. Somnier, “Clinical implementation of anti-acetylcholine receptor antibodies,” Journal of Neurology Neurosurgery and Psychiatry, vol. 56, no. 5, pp. 496–504, 1993. View at Google Scholar · View at Scopus
  8. R. J. Lane, F. Roncaroli, P. Charles, D. G. McGonagle, and R. W. Orrell, “Acetylcholine receptor antibodies in patients with genetic myopathies: clinical and biological significance,” Neuromuscular Disorder, vol. 22, no. 2, pp. 122–128, 2012. View at Publisher · View at Google Scholar
  9. S. A. Robb, A. Vincent, M. A. McGregor, A. M. McGregor, and J. M. Newsom-Davis, “Acetylcholine receptor antibodies in the elderly and in Down's syndrome,” Journal of Neuroimmunology, vol. 9, no. 3-4, pp. 139–146, 1985. View at Google Scholar · View at Scopus
  10. M. Tanaka and T. Miyatake, “Anti-acetylcholine receptor antibody in aged individuals and in patients with Down's syndrome,” Journal of Neuroimmunology, vol. 4, no. 1, pp. 17–24, 1983. View at Publisher · View at Google Scholar · View at Scopus