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...

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Gepubliceerd in:Front Neurol
Hoofdauteurs: Niu, Jingwen, Dai, Yi, Liu, Mingsheng, Li, Yi, Ding, Qingyun, Guan, Yuzhou, Cui, Liying, Jin, Liri
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Frontiers Media S.A. 2020
Onderwerpen:
Neurology
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6974795/
https://ncbi.nlm.nih.gov/pubmed/32010055
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2019.01406
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