Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22
β Scribed by A Simonati; G.M Fabrizi; A Pasquinelli; F Taioli; T Cavallaro; M Morbin; G Marcon; M Papini; N Rizzuto
- Book ID
- 117671028
- Publisher
- Elsevier Science
- Year
- 1999
- Tongue
- English
- Weight
- 868 KB
- Volume
- 9
- Category
- Article
- ISSN
- 0960-8966
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## Abstract Autopsy examination of a 31/4βyearβold child with a severe congenital hypomyelination neuropathy showed the anterior spinal nerve roots and motor cranial nerves to be almost devoid of myelin in their subarachnoid course. The posterior spinal nerve roots and peripheral nerves were less s