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

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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Bibliographic Details
Main Authors: Li-Xi Li, Hai-Lin Dong, Bao-Guo Xiao, Zhi-Ying Wu
Format: Article
Language:English
Published: Wolters Kluwer 2017-01-01
Series:Chinese Medical Journal
Subjects:
Apoptosis; Charcot-Marie-Tooth Disease; Endoplasmic Reticulum; Missense Mutation; Peripheral Myelin Protein-22
Online Access: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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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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