Defects in periaxin associated with myelinopathies
US7273698B2 · kind B2 · utility
1Cited by
12References
35Claims
0Family size
Assignee
Inventors
Key dates
| Filing date | Dec 13, 2001 |
| Grant date | Sep 25, 2007 |
| Priority date | — |
| Expiry date | Jan 24, 2024 |
Classification
- Technology area (CPC G)Physics
- CPC primaryG01N2800/285
- WIPO fieldMeasurement
- WIPO sectorInstruments
Abstract
The present invention relates to defects in periaxin (PRX) associated with myelinopathies, including Charcot-Marie-Tooth syndrome and/or Dejerine-Sottas syndrome. Unrelated individuals having a myelinopathy from Dejerine-Sottas syndrome have recessive PRX mutations. The PRX locus maps to a region associated with a severe autosomal recessive demyelinating neuropathy and is also syntenic to the Prx location on murine chromosome 7.
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.