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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Principais autores:	Aziza Miriam Belkheir, Janine Reunert, Christiane Elpers, Lambert van den Heuvel, Richard Rodenburg, Anja Seelhöfer, Stephan Rust, Astrid Jeibmann, Michael Frosch, Thorsten Marquardt
Format:	Artigo
Jezik:	Inglês
Izdano:	Frontiers Media S.A. 2021-04-01
Serija:	Frontiers in Neurology
Teme:	ßIV-spectrin deficiency mitochondrial dysfunction neurodegeneration cardiomyopathy psychomotor developmental arrest case report
Online dostop:	https://www.frontiersin.org/articles/10.3389/fneur.2021.643805/full
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