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Xu, R. Pelizaeus-Merzbacher-Like Disease Type 1. Encyclopedia. Available online: https://encyclopedia.pub/entry/5228 (accessed on 22 September 2026).
Xu R. Pelizaeus-Merzbacher-Like Disease Type 1. Encyclopedia. Available at: https://encyclopedia.pub/entry/5228. Accessed September 22, 2026.
Xu, Rita. "Pelizaeus-Merzbacher-Like Disease Type 1" Encyclopedia, https://encyclopedia.pub/entry/5228 (accessed September 22, 2026).
Xu, R. (2020, December 24). Pelizaeus-Merzbacher-Like Disease Type 1. In Encyclopedia. https://encyclopedia.pub/entry/5228
Xu, Rita. "Pelizaeus-Merzbacher-Like Disease Type 1." Encyclopedia. Web. 24 December, 2020.
Pelizaeus-Merzbacher-Like Disease Type 1
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/pelizaeus-merzbacher-like-disease-type-1

Pelizaeus-Merzbacher-like disease type 1 is an inherited condition involving the brain and spinal cord (central nervous system).

genetic conditions

References

  1. Hobson GM, Garbern JY. Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-likedisease 1, and related hypomyelinating disorders. Semin Neurol. 2012Feb;32(1):62-7. doi: 10.1055/s-0032-1306388.
  2. Ji H, Li D, Wu Y, Zhang Q, Gu Q, Xie H, Ji T, Wang H, Zhao L, Zhao H, Yang Y, Feng H, Xiong H, Ji J, Yang Z, Kou L, Li M, Bao X, Chang X, Zhang Y, Li L, Li H, Niu Z, Wu X, Xiao J, Jiang Y, Wang J. Hypomyelinating disorders in China: Theclinical and genetic heterogeneity in 119 patients. PLoS One. 2018 Feb16;13(2):e0188869. doi: 10.1371/journal.pone.0188869.
  3. Nahhas N, Conant A, Orthmann-Murphy J, Vanderver A, Hobson G.Pelizaeus-Merzbacher-Like Disease 1. 2017 Dec 21 [updated 2019 Jan 17]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle;1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK470716/
  4. Orthmann-Murphy JL, Freidin M, Fischer E, Scherer SS, Abrams CK. Two distinct heterotypic channels mediate gap junction coupling between astrocyte andoligodendrocyte connexins. J Neurosci. 2007 Dec 19;27(51):13949-57.
  5. Osaka H, Hamanoue H, Yamamoto R, Nezu A, Sasaki M, Saitsu H, Kurosawa K,Shimbo H, Matsumoto N, Inoue K. Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease. Ann Neurol. 2010 Aug;68(2):250-4. doi: 10.1002/ana.22022.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Rita Xu
View Times: 705
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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