Table of Contents Author Guidelines Submit a Manuscript
Case Reports in Genetics
Volume 2015, Article ID 453105, 3 pages
Case Report

Unusual Presentation of Pelizaeus-Merzbacher Disease: Female Patient with Deletion of the Proteolipid Protein 1 Gene

Silicon Valley Genetics Center, Santa Clara Valley Medical Center, San Jose, CA 95128, USA

Received 14 January 2015; Accepted 10 February 2015

Academic Editor: Patrick Morrison

Copyright © 2015 Teva Brender 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. J. Garbern, F. Cambi, M. Shy, and J. Kamholz, “The molecular pathogenesis of Pelizaeus-Merzbacher disease,” Archives of Neurology, vol. 56, no. 10, pp. 1210–1214, 1999. View at Publisher · View at Google Scholar · View at Scopus
  2. C. M. B. Carvalho, M. Bartnik, D. Pehlivan, P. Fang, J. Shen, and J. R. Lupski, “Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22,” Clinical Genetics, vol. 81, no. 6, pp. 532–541, 2012. View at Publisher · View at Google Scholar · View at Scopus
  3. P. Laššuthová, M. Žaliová, K. Inoue et al., “Three new PLP1 splicing mutations demonstrate pathogenic and phenotypic diversity of pelizaeus-merzbacher disease,” Journal of Child Neurology, vol. 29, no. 7, pp. 924–931, 2014. View at Publisher · View at Google Scholar
  4. I. Warshawsky, O. B. Chernova, C. A. Hübner et al., “Multiplex ligation-dependent probe amplification for rapid detection of proteolipid protein 1 gene duplications and deletions in affected males and carrier females with Pelizaeus-Merzbacher disease,” Clinical Chemistry, vol. 52, no. 7, pp. 1267–1275, 2006. View at Publisher · View at Google Scholar · View at Scopus
  5. D. Hoffman-Zacharska, H. Mierzewska, E. Szczepanik et al., “The spectrum of PLP1 gene mutations in patients with the classical form of the Pelizaeus-Merzbacher disease,” Medycyna Wieku Rozwojowego, vol. 17, no. 4, pp. 293–300, 2013. View at Google Scholar · View at Scopus