CNTNAP1-Related Congenital Hypomyelinating Neuropathy.
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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