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giant axonal neuropathy

Pathology: - sensorimotor neuropathy affecting both peripheral nerves & the central nervous system - neurofilament accumulation, leading to segmental distension of axons Genetics: - autosomal recessive - associated with defects in GAN

General

genetic disease of the central nervous system genetic disease of the peripheral nervous system

Database Correlations

OMIM 256850

References

  1. UniProt :accession Q9H2C0
  2. OMIM :accession 256850