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NEFL

MIM.162280 8p21

Saturday 19 March 2005

Neurofilaments are composed of 3 neuron-specific proteins with apparent molecular masses of 68 kD (NEFL), 125 kD (NEFM), and 200 kD (NEFH) on SDS-gel electrophoresis.

Pathology

- NEFL germline mutations in

  • autosomal dominant Charcot-Marie-Tooth disease of the 2E axonal form (CMT2E) (MIM.607684)
  • germline mutations in Charcot-Marie-Tooth disease of the 1F type (CMT1F) (MIM.607734)