James R. Lupski - Houston TX, US Hiroshi Takashima - Houston TX, US
Assignee:
Baylor College of Medicine - Houston TX
International Classification:
C12Q 1/68 C07H 21/02
US Classification:
435 6, 536 2433
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.
Defects In Periaxin Associated With Myelinopathies
James R. Lupski - Houston TX, US Hiroshi Takashima - Houston TX, US
Assignee:
Baylor College of Medicine - Houston TX
International Classification:
C12Q 1/68 C12P 19/34 C07H 21/04
US Classification:
435 6, 435 912, 536 231, 536 2344
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.