CMT2Q-causing mutation in the Dhtkd1 gene lead to sensory defects, mitochondrial accumulation and altered metabolism in a knock-in mouse model

Abstract Charcot-Marie-Tooth disease (CMT) is a group of inherited neurological disorders of the peripheral nervous system. CMT is subdivided into two main types: a demyelinating form, known as CMT1, and an axonal form, known as CMT2. Nearly 30 genes have been identified as a cause of CMT2. One of t...

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Bibliographic Details
Main Authors: Chun-jie Luan, Wenting Guo, Lei Chen, Xi-wei Wei, Yimin He, Yan Chen, Su-ying Dang, Robert Prior, Xihua Li, Ying Kuang, Zhu-gang Wang, Ludo Van Den Bosch, Ming-min Gu
Format: Article
Language:English
Published: BMC 2020-03-01
Series:Acta Neuropathologica Communications
Online Access:http://link.springer.com/article/10.1186/s40478-020-00901-0