Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region

Congenital hypomyelinating neuropathy is a rare neonatal syndrome responsible for hypotonia and weakness. Nerve microscopic examination shows amyelination or hypomyelination. Recently, mutations in CNTNAP1 have been described in a few patients. CNTNAP1 encodes contactin-associated protein 1 (caspr-1...

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Bibliografiska uppgifter
I publikationen:J Neuropathol Exp Neurol
Huvudupphovsmän: Vallat, Jean-Michel, Nizon, Mathilde, Magee, Alex, Isidor, Bertrand, Magy, Laurent, Péréon, Yann, Richard, Laurence, Ouvrier, Robert, Cogné, Benjamin, Devaux, Jérôme, Zuchner, Stephan, Mathis, Stéphane
Materialtyp: Artigo
Språk:Inglês
Publicerad: Oxford University Press 2016
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Original Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC6394372/
https://ncbi.nlm.nih.gov/pubmed/27818385
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/jnen/nlw093
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