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Homozygous Expression of a Dominant Gene Causing Peroneal Muscular Atrophy (Charcot-Marie-Tooth Disease)

Published online by Cambridge University Press:  01 August 2014

H. Warner Kloepfer  and
James M. Killian
H. Warner Kloepfer*
Affiliation:
Department of Anatomy, Tulane University School of Medicine, New Orleans, Louisiana, USA
James M. Killian
Affiliation:
Department of Anatomy, Tulane University School of Medicine, New Orleans, Louisiana, USA
*
Department of Anatomy, Tulane University School of Medicine, 1430 Tulane Avenue, New Orleans, Louisiana 70125, USA

Abstract

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This study involves the presentation of a kindred from Southwestern Louisiana showing 66 individuals who were heterozygous for a rare dominant gene for a type of Charcot-Marie-Tooth disease with hypertrophy of peripheral nerves. Two marriages between heterozygotes resulted in the occurrence of five homozygous offsprings. Clinical features of these previously undescribed homozygotes are compared to the clinical features of the classic type of heterozygote. The value of using nerve-conduction time to detect the asymptomatic heterozygote for Charcot-Marie-Tooth disease is discussed.

Type
6. Free Contributions: Second Group
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 23 , supplement S1 , January 1974 , pp. 217 - 220
Copyright
Copyright © The International Society for Twin Studies 1974

References

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