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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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| 發表在: | J Neuropathol Exp Neurol |
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| Main Authors: | , , , , , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Oxford University Press
2016
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| 主題: | |
| 在線閱讀: | 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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