Journal
PEDIATRIC NEUROLOGY
Volume 48, Issue 1, Pages 59-62Publisher
ELSEVIER SCIENCE INC
DOI: 10.1016/j.pediatrneurol.2012.09.011
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Funding
- Research Committee of Spinal Muscular Atrophy at the Ministry of Health, Labor, and Welfare of Japan
- National Center of Neurology and Psychiatry [23-6]
- Nervous and Mental Disorders and Research Committee for Charcot-Marie-Tooth Disease, Neuropathy, Ataxic Disease, and Research on Applying Health Technology at the Japanese Ministry of Health, Welfare and Labor
- Grants-in-Aid for Scientific Research [22590968] Funding Source: KAKEN
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We describe a boy aged 2 years and 11 months with congenital hypomyelinating neuropathy attributable to a de novo heterozygous missense mutation of c.181G>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. (C) 2013 Elsevier Inc. All rights reserved.
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