Diagnosis of a floppy neonate with misleading clues: unraveled as congenital hypomyelinating neuropathy
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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