PMP22 expression in dermal nerve myelin from patients with CMT1A

Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by a 1.4 Mb duplication on chromosome 17p11.2, which contains the peripheral myelin protein-22 (PMP22) gene. Increased levels of PMP22 in compact myelin of peripheral nerves have been demonstrated and presumed to cause the phenotype of CMT1A. The...

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Autori principali: Katona, Istvan, Wu, Xingyao, Feely, Shawna M. E., Sottile, Stephanie, Siskind, Carly E., Miller, Lindsey J., Shy, Michael E., Li, Jun
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2009
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Original Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2724915/
https://ncbi.nlm.nih.gov/pubmed/19447823
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awp113
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