Severe Form of ßIV-Spectrin Deficiency With Mitochondrial Dysfunction and Cardiomyopathy—A Case Report

ßIV-spectrin is a protein of the spectrin family which is involved in the organization of the cytoskeleton structure and is found in high quantity in the axon initial segment and the nodes of Ranvier. Together with ankyrin G, ßIV-spectrin is responsible for the clustering of KCNQ2/3-potassium channe...

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Detalles Bibliográficos
Autores principales: Belkheir, Aziza Miriam, Reunert, Janine, Elpers, Christiane, van den Heuvel, Lambert, Rodenburg, Richard, Seelhöfer, Anja, Rust, Stephan, Jeibmann, Astrid, Frosch, Michael, Marquardt, Thorsten
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8110827/
https://www.ncbi.nlm.nih.gov/pubmed/33986717
http://dx.doi.org/10.3389/fneur.2021.643805

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8110827/
https://www.ncbi.nlm.nih.gov/pubmed/33986717
http://dx.doi.org/10.3389/fneur.2021.643805

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