Severe Form of ßIV-Spectrin Deficiency With Mitochondrial Dysfunction and Cardiomyopathy—A Case Report
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DOI: 10.3389/fneur.2021.643805
Abstract: 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… read more here.
Keywords: form spectrin; severe form; spectrin deficiency; mitochondrial dysfunction ... See more keywords