Congenital hypomyelinating neuropathy

Definition:

Congenital hypomyelinating neuropathy (CHN) is a rare congenital neuropathy, often accompanied by arthrogryposis, that is characterized by prenatal onset, areflexia, hypotonia, hypomyelination, and slowed nerve conduction velocities. Previous reports of genetic analyses of patients have described mutations in genes known to be important in myelination.

References:

[1]. Benoît Funalot, et al. Homozygous deletion of an EGR2 enhancer in congenital amyelinating neuropathy. Ann Neurol. 2012 May;71(5):719-23. [Content Brief]

[2]. Kinga Szigeti, et al. Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation. Ann Neurol. 2003 Sep;54(3):398-402. [Content Brief]

[3]. Paulomi Mehta, et al. Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. Muscle Nerve. 2017 May;55(5):761-765. [Content Brief]

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