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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...

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Vydáno v:Acta Neurol Scand
Hlavní autoři: Braathen, G. J., Høyer, H., Busk, Ø. L., Tveten, K., Skjelbred, C. F., Russell, M. B.
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2015
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5057358/
https://ncbi.nlm.nih.gov/pubmed/26517670
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/ane.12515
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