Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A

@article{Lupski1992GeneDI,
  title={Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A},
  author={James R Lupski and Carol A. Wise and Akira Kuwano and Liu Pentao and Julie T. Parke and Daniel Gordon Glaze and D. H. Ledbetter and Frank S. Greenberg and Pragna I. Patel},
  journal={Nature Genetics},
  year={1992},
  volume={1},
  pages={29-33}
}
Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common inherited peripheral neuropathy in humans, characterized electrophysiologically by decreased nerve conduction velocities (NCVs). CMT1A is associated with a large submicroscopic DNA duplication in proximal 17p. In this report we demonstrate that a patient with a cytogenetically visible duplication, dup(17)(p11.2p12), has decreased NCV. Molecular analysis demonstrated this patient was duplicated for all the DNA markers duplicated in… CONTINUE READING
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