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Variants in the genes DCTN2,DNAH10,LRIG3, and MYO1A are associated with intermediate Charcot–Marie–Tooth disease in a Norwegian family
INTRODUCTION: Charcot–Marie–Tooth disease (CMT) is a heterogeneous inherited neuropathy. The number of known CMT genes is rapidly increasing mainly due to next‐generation sequencing technology, at present more than 70 CMT‐associated genes are known. We investigated whether variants in the DCTN2 coul...
Autores principales: | Braathen, G. J., Høyer, H., Busk, Ø. L., Tveten, K., Skjelbred, C. F., Russell, M. B. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5057358/ https://www.ncbi.nlm.nih.gov/pubmed/26517670 http://dx.doi.org/10.1111/ane.12515 |
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