Defects in periaxin associated with myelinopathies

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

2007-09-25

2007-09-25

Chunduru, Suryaprabha (Department: 1637)

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving nucleic acid

C536S024330

Reexamination Certificate

active

10021955

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.

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