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Congenital hypomyelination neuropathy with arthrogryposis multiplex congenita
Author(s) -
Boylan Kevin B.,
Ferriero Donna M.,
Greco Claudia M.,
Sheldon R. Ann,
Dew Michael
Publication year - 1992
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410310318
Subject(s) - arthrogryposis multiplex congenita , medicine , multiplex , arthrogryposis , neuroscience , bioinformatics , biology , anatomy
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 Po, myelin basic protein, and myelin‐associated glycoprotein. Arrest of peripheral myelination at the promyelin stage appears to be the origin of myelin deficiency.