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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| Principais autores: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wolters Kluwer
2017-01-01
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| coleção: | Chinese Medical Journal |
| Assuntos: | |
| Acesso em linha: | http://www.cmj.org/article.asp?issn=0366-6999;year=2017;volume=130;issue=15;spage=1779;epage=1784;aulast=Li |
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