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GJB1 Mutation-A Disease Spectrum: Report of Case Series
Introduction: Patients with GJB1 mutations manifested as pure central nervous system (CNS) involvement without peripheral neuropathy have not been adequately reported. To expand the disease spectrum of GJB1 mutations, we report a case series. Methods: Eleven patients from 9 families with GJB1 mutati...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6974795/ https://www.ncbi.nlm.nih.gov/pubmed/32010055 http://dx.doi.org/10.3389/fneur.2019.01406 |