Identification of a rare SEPT9 variant in a family with autosomal dominant Charcot-Marie-Tooth disease

BACKGROUND: Charcot-Marie-Tooth disease (CMT) is one of the most commonly inherited neurological disorders. A growing number of genes, involved in glial and neuronal functions, have been associated with different subtypes of CMT leading to improved diagnostics and understanding of pathophysiological...

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Udgivet i:BMC Med Genet
Main Authors: Grosse, Gerrit M., Bauer, Christine, Kopp, Bruno, Schrader, Christoph, Osmanovic, Alma
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2020
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7050135/
https://ncbi.nlm.nih.gov/pubmed/32122354
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-0984-7
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