(Q66084904)

English

distal hereditary motor neuronopathy type 2A

A distal hereditary motor neuropathy type 2 that has material basis in heterozygous mutation in HSPB8 on 12q24.23.

  • spinal Charcot-Marie-Tooth disease IIA
  • HMN IIA
  • HMN2A
  • distal hereditary motor neuropathy type IIA
  • autosomal dominant adult spinal muscular atrophy IIA

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