One Multilocus Genomic Variation Is Responsible for a Severe Charcot–Marie–Tooth Axonal Form

One Multilocus Genomic Variation Is Responsible for a Severe Charcot–Marie–Tooth Axonal Form

Charcot–Marie–Tooth (CMT) disease is a heterogeneous group of inherited disorders affecting the peripheral nervous system, with a prevalence of 1/2500. So far, mutations in more than 80 genes have been identified causing either demyelinating forms (CMT1) or axonal forms (CMT2). Consequentially, the...

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Bibliographic Details
Main Authors: Federica Miressi, Corinne Magdelaine, Pascal Cintas, Sylvie Bourthoumieux, Angélique Nizou, Paco Derouault, Frédéric Favreau, Franck Sturtz, Pierre-Antoine Faye, Anne-Sophie Lia
Format: Article
Language:English
Published: MDPI AG 2020-12-01
Series:Brain Sciences
Subjects:
multilocus disease
Charcot–Marie–Tooth
diagnosis
CNV
NGS
Online Access:https://www.mdpi.com/2076-3425/10/12/986

Internet

https://www.mdpi.com/2076-3425/10/12/986

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