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A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy)
EGR2 (early growth response 2) is a crucial transcription factor for the myelination of the peripheral nervous system. Mutations in EGR2 are reported to cause a heterogenous spectrum of peripheral neuropathy with wide variation in both severity and age of onset, including demyelinating and axonal fo...
Autores principales: | Grosz, Bianca R., Golovchenko, Natasha B., Ellis, Melina, Kumar, Kishore, Nicholson, Garth A., Antonellis, Anthony, Kennerson, Marina L. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6920433/ https://www.ncbi.nlm.nih.gov/pubmed/31852952 http://dx.doi.org/10.1038/s41598-019-55875-4 |
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