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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Principais autores:	Federica Miressi, Corinne Magdelaine, Pascal Cintas, Sylvie Bourthoumieux, Angélique Nizou, Paco Derouault, Frédéric Favreau, Franck Sturtz, Pierre-Antoine Faye, Anne-Sophie Lia
Format:	Artigo
Jezik:	Inglês
Izdano:	MDPI AG 2020-12-01
Serija:	Brain Sciences
Teme:	multilocus disease Charcot–Marie–Tooth diagnosis CNV NGS
Online dostop:	https://www.mdpi.com/2076-3425/10/12/986
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