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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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| Publicat a: | BMC Med Genet |
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| Autors principals: | , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BioMed Central
2020
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| Matèries: | |
| Accés en línia: | 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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