Congenital hypomyelination neuropathy with arthrogryposis multiplex congenita.
Ann Neurol
; 31(3): 337-40, 1992 Mar.
Article
en En
| MEDLINE
| ID: mdl-1637141
ABSTRACT
A term male infant is described with an isolated disorder of peripheral myelination. At necropsy, the great majority of medium-to-large axons were unmyelinated. Electron microscopy showed normal axons and redundant lamination of basement membrane, suggestive of early onion bulb pathology. Immunohistochemistry of peripheral nerve showed deficiency of the myelin proteins P2 and P0, myelin basic protein, and myelin-associated glycoprotein. Arrest of peripheral myelination at the promyelin stage appears to be the origin of myelin deficiency.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Artrogriposis
/
Proteínas de la Mielina
/
Vaina de Mielina
/
Fibras Nerviosas Mielínicas
/
Enfermedades Neuromusculares
Límite:
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
Ann Neurol
Año:
1992
Tipo del documento:
Article