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A Novel Missense Mutation in Peripheral Myelin Protein-22 Causes Charcot-Marie-Tooth Disease

BACKGROUND: Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy. A great number of causative genes have been described in CMT, and among them, the heterozygous duplication of peripheral myelin protein-22 (PMP22) is the major cause. Although the missense mutation in P...

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Dettagli Bibliografici
Pubblicato in:Chin Med J (Engl)
Autori principali: Li, Li-Xi, Dong, Hai-Lin, Xiao, Bao-Guo, Wu, Zhi-Ying
Natura: Artigo
Lingua:Inglês
Pubblicazione: Medknow Publications & Media Pvt Ltd 2017
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5547828/
https://ncbi.nlm.nih.gov/pubmed/28748849
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0366-6999.211539
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