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Published in 2019 at "Pediatric neurology"
DOI: 10.1016/j.pediatrneurol.2018.12.014
Abstract: BACKGROUND Congenital hypomyelinating neuropathy is a rare form of hereditary peripheral neuropathy characterized by nonprogressive weakness, areflexia, hypotonia, severely reduced nerve conduction velocities, and hypomyelination. Mutations in contactin-associated protein 1 (CNTNAP1) were recently described as…
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Keywords:
hypomyelinating neuropathy;
congenital hypomyelinating;
cntnap1 related;
related congenital ... See more keywords
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Published in 2022 at "BMJ Case Reports"
DOI: 10.1136/bcr-2021-247555
Abstract: Contactin-associated protein 1 (CNTNAP1)-related congenital hypomyelinating neuropathy (CHN) is a rare type of peripheral neuropathy and has a clinically heterogeneous presentation. We report a neonate with an atypical presentation in the form of global hypotonia,…
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Keywords:
congenital hypomyelinating;
hypomyelinating neuropathy;
neonate misleading;
diagnosis floppy ... See more keywords