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- Publisher
- Springer Journals
- Copyright
- Copyright © 1995 by Nature Publishing Group
- Subject
- Biomedicine; Biomedicine, general; Human Genetics; Cancer Research; Agriculture; Gene Function; Animal Genetics and Genomics
- ISSN
- 1061-4036
- eISSN
- 1546-1718
- DOI
- 10.1038/ng1195-281
- Publisher site
- See Article on Publisher Site
Abstract
Mutations in the human gene for the myelin recognition molecule protein zero (P0) give rise to severe and progressive forms of dominantly inherited peripheral neuropathies. We have previously reported that mice homozygous for a null mutation in P0 have severely hypomyelinated nerves ten weeks after birth. Here we show hypomyelination already exists at day four with subsequent demyelination and impaired nerve conduction. Furthermore, heterozygous mutants show normal myelination, but develop progressive demyelination after four months of age. Thus, the pathology of homo– and heterozygous P0 mutants resembles that of the severely affected Déjérine–Sottas and the more mildly affected Charcot–Marie–Tooth type 1B patients, respectively.
Journal
Nature Genetics – Springer Journals
Published: Nov 1, 1995