Articles with "congenital hypomyelinating" as a keyword



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CNTNAP1-Related Congenital Hypomyelinating Neuropathy.

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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… read more here.

Keywords: hypomyelinating neuropathy; congenital hypomyelinating; cntnap1 related; related congenital ... See more keywords
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Diagnosis of a floppy neonate with misleading clues: unraveled as congenital hypomyelinating neuropathy

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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,… read more here.

Keywords: congenital hypomyelinating; hypomyelinating neuropathy; neonate misleading; diagnosis floppy ... See more keywords