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...
Main Authors: | , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2020-03-01
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Series: | Acta Neuropathologica Communications |
Online Access: | http://link.springer.com/article/10.1186/s40478-020-00901-0 |