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We have previously reported that heterozygosity for myelin Po gene mutations were associated with Charcot–Marie–Tooth disease type 1B (CMT1B) or Dejerine–Sottas disease. We investigated the Po gene in a family with clinical Dejerine–Sottas disease and found two children were homozygous for a deletion of Phe 64. The parents were heterozygous first cousins with subclinical CMT1B and slow nerve conduction...
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