Congenital hypomyelinating neuropathy
Definition:
References:
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[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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