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DEFECTS IN PERIAXIN ASSOCIATED WITH MYELINOPATHIES
DEFECTS IN PERIAXIN ASSOCIATED WITH MYELINOPATHIES
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机译:百日清与骨髓病相关的缺陷
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摘要
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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