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Pediatr Neurol. 2013 Jan;48(1):59-62. doi: 10.1016/j.pediatrneurol.2012.09.011.

Congenital hypomyelinating neuropathy attributable to a de novo p.Asp61Asn mutation of the myelin protein zero gene.

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Department of Child Neurology, National Center of Neurology and Psychiatry, National Center Hospital, Tokyo, Japan.


We describe a boy aged 2 years and 11 months with congenital hypomyelinating neuropathy attributable to a de novo heterozygous missense mutation of c.181 G>A (p.Asp61Asn) in the myelin protein zero gene. A nerve conduction study indicated markedly reduced motor conduction velocities in the upper and lower extremities. Stimuli of up to 50-100 mA were necessary for nerve activation, suggesting diseased nerves with greatly decreased excitability. A sural nerve biopsy revealed a marked loss of large myelinated fibers, the absence of myelin breakdown products, occasional basal lamina onion-bulb formations, and tomacula-like structures. The p.Asp61Asn mutation is novel in congenital hypomyelinating neuropathy, but was previously reported in a patient with Charcot-Marie-Tooth disease type 1.

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