AIMP1/p43 mutation and PMLD
- PMID: 21397066
- PMCID: PMC3059415
- DOI: 10.1016/j.ajhg.2011.02.003
AIMP1/p43 mutation and PMLD
Comment on
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Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation.Am J Hum Genet. 2010 Dec 10;87(6):820-8. doi: 10.1016/j.ajhg.2010.10.016. Epub 2010 Nov 18. Am J Hum Genet. 2010. PMID: 21092922 Free PMC article.
References
-
- Uhlenberg B., Schuelke M., Rüschendorf F., Ruf N., Kaindl A.M., Henneke M., Thiele H., Stoltenburg-Didinger G., Aksu F., Topaloğlu H. Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. Am. J. Hum. Genet. 2004;75:251–260. - PMC - PubMed
-
- Bugiani M., Al Shahwan S., Lamantea E., Bizzi A., Bakhsh E., Moroni I., Balestrini M.R., Uziel G., Zeviani M. GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy. Neurology. 2006;67:273–279. - PubMed
-
- Hanefeld F.A., Brockmann K., Pouwels P.J., Wilken B., Frahm J., Dechent P. Quantitative proton MRS of Pelizaeus-Merzbacher disease: Evidence of dys- and hypomyelination. Neurology. 2005;65:701–706. - PubMed
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