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

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 these is t...

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Detalles Bibliográficos
Autores principales: Luan, Chun-jie, Guo, Wenting, Chen, Lei, Wei, Xi-wei, He, Yimin, Chen, Yan, Dang, Su-ying, Prior, Robert, Li, Xihua, Kuang, Ying, Wang, Zhu-gang, Van Den Bosch, Ludo, Gu, Ming-min
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7071680/
https://www.ncbi.nlm.nih.gov/pubmed/32169121
http://dx.doi.org/10.1186/s40478-020-00901-0

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