Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy.

  title={Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy.},
  author={V. Ionasescu and James A. Trofatter and Jonathan L. Haines and Anne M. Summers and Rebeca Ionasescu and C Alexander Searby},
  journal={American journal of human genetics},
  volume={48 6},
Three families presenting with X-linked recessive Charcot-Marie-Tooth neuropathies (CMT) were studied both clinically and genetically. The disease phenotype in family 1 was typical of CMT type 1, except for an infantile onset; two of five affected individuals were mentally retarded, and obligate-carrier females were unaffected. Families 2 and 3 showed distal atrophy with weakness, juvenile onset, and normal intelligence. Motor-nerve conduction velocities were significantly slowed, and… CONTINUE READING


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