Insertion of Mutant Proteolipid Protein Results in Missorting of Myelin Proteins

Two brothers with a leukodystrophy, progressive spastic diplegia, and peripheral neuropathy were found to have proteinaceous aggregates in the peripheral nerve myelin sheath. The patients’ mother had only subclinical peripheral neuropathy, but the maternal grandmother had adult-onset leukodystrophy....

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Bibliografische gegevens
Gepubliceerd in:Ann Neurol
Hoofdauteurs: Vaurs-Barriere, Catherine, Wong, Kondi, Weibel, Thais D., Abu-Asab, Mones, Weiss, Michael D., Kaneski, Christine R., Mixon, Tong-Hui, Bonavita, Simona, Creveaux, Isabelle, Heiss, John D., Tsokos, Maria, Goldin, Ehud, Quarles, Richard H., Boespflug-Tanguy, Odile, Schiffmann, Raphael
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2003
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4294275/
https://ncbi.nlm.nih.gov/pubmed/14681886
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.10762
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