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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Detalles Bibliográficos
Autores principales: Miressi, Federica, Magdelaine, Corinne, Cintas, Pascal, Bourthoumieux, Sylvie, Nizou, Angélique, Derouault, Paco, Favreau, Frédéric, Sturtz, Franck, Faye, Pierre-Antoine, Lia, Anne-Sophie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7765239/
https://www.ncbi.nlm.nih.gov/pubmed/33333791
http://dx.doi.org/10.3390/brainsci10120986

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7765239/
https://www.ncbi.nlm.nih.gov/pubmed/33333791
http://dx.doi.org/10.3390/brainsci10120986

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