Charcot-Marie-Tooth phenotype produced by a duplicated PMP22 gene as part of a 17p trisomy-translocation to the X chromosome.

doi:10.1111/j.1399-0004.1998.tb03755.x

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Article

Charcot-Marie-Tooth phenotype produced by a duplicated PMP22 gene as part of a 17p trisomy-translocation to the X chromosome.

Clinical genetics - 1 Nov 1998

King P H, Waldrop R, Lupski J R, Shaffer L G

Abstract excerpt

The Charcot-Marie-Tooth disease type 1A (CMT1A) phenotype is most often associated with a 1.5 megabase (mb), tandem duplication of chromosome 17 band p12 (17p12). The prevailing hypothesis is that the demyelinating neuropathy results from a dosage effect of the peripheral myelin protein gene PMP2...

Topics

Adult
Charcot-Marie-Tooth Disease
Chromosomes, Human, Pair 17
Gene Duplication
Humans
Myelin Proteins
Neural Conduction
Phenotype
Translocation, Genetic
Trisomy
X Chromosome

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