CNTNAP1-Related Congenital Hypomyelinating Neuropathy.
Sign Up to like & getrecommendations! 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
Diagnosis of a floppy neonate with misleading clues: unraveled as congenital hypomyelinating neuropathy
Sign Up to like & getrecommendations! 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