βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy

βIV spectrin links ankyrinG (AnkG) and clustered ion channels at axon initial segments (AISs) and nodes of Ranvier to the axonal cytoskeleton. Here, we report bi-allelic pathogenic SPTBN4 variants (three homozygous and two compound heterozygous) that cause a severe neurological syndrome that include...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Wang, Chih-Chuan, Ortiz-González, Xilma R., Yum, Sabrina W., Gill, Sara M., White, Amy, Kelter, Erin, Seaver, Laurie H., Lee, Sansan, Wiley, Graham, Gaffney, Patrick M., Wierenga, Klaas J., Rasband, Matthew N.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5992132/
https://ncbi.nlm.nih.gov/pubmed/29861105
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2018.04.012
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