Defects in periaxin associated with myelinopathies

Details Defects in periaxin associated with myelinopathies Defects in periaxin associated with myelinopathies

C - Chemistry, Metallurgy

12

N

C12N 15/11 (2006.01) C07K 14/47 (2006.01) C12P 19/34 (2006.01) C12Q 1/68 (2006.01) G01N 33/68 (2006.01)

Patent

CA 2399280

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.

L'invention concerne des défauts dans la périaxine (PRX) associés à des myélinopathies, dont le syndrome de Charcot-Marie-Tooth et/ou le syndrome de Dejerine-Sottas. Des individus non apparentés souffrant d'une myélinopathie provenant du syndrome de Dejerine-Sottas présentent des mutations de PRX récessives. Le locus PRX se situe dans une région associée à une neuropathie démyélinisante autosomique récessive grave et est également synténique à l'emplacement de PRX sur le chromosome 7 murin.

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